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1. Amyloidosis from the patient perspective: the French daily impact of amyloidosis study

Author: Thibaud Damy, David Adams, Frank Bridoux, Gilles Grateau, Violaine Planté-Bordeneuve, Yves Ghiron, Agnès Farrugia, Françoise Pelcot, Charles Taieb, Céline Labeyrie, Arnaud Jaccard, Sophie Georgin-Lavialle, Referral Centre for Cardiac Amyloidosis, GRC Amyloid Research Institute, Reseau amylase, Créteil, France, Service de Cardiologie [CHU Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Filière Neuromusculaire (FILNEMUS), National Reference Center for FAP (NNERF)/ APHP/ INSERM U 1191, Hôpital de Bicêtre, Service de neurologie [Le Kremlin Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Referral Center for AL amyloidosis, Limoges, France, Filière de santé Maladies rares immuno-hématologiques (MaRIH), Service de Néphrologie [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Center of reference for rare systemic autoimmune diseases (FAI2R), Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), Service de neurologie [Mondor], Association Française Contre l’Amylose (AFCA), European Market Maintenance Assessment [Fontenay-sous-Bois] (EMMA ), Service d'Hématologie clinique et thérapie cellulaire [CHU Limoges], and CHU Limoges
Subjects: Male, Amyloid Neuropathies, Familial, Serum Amyloid A Protein, transthyretin amyloidosis, Pain, Amyloidosis, Cross-Sectional Studies, quality of life, AA amyloidosis, Internal Medicine, Humans, Prealbumin, Female, Immunoglobulin Light-chain Amyloidosis, AL amyloidosis, diagnosis duration, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Aged
Abstract: International audience; BackgroundAmyloidosis is a complex group of rare conditions. For patients, amyloidosis is severely debilitating: physically and psychologically. Currently, data are lacking to evaluate the medical, economic, and social burden of systemic amyloidosis.ObjectiveTo analyse the patient burden according to the main types of systemic amyloidosis.MethodsThe French Daily Impact of Amyloidosis study was an observational, cross-sectional and non-interventional study. Adults diagnosed with light chain (AL), transthyretin (ATTR), amyloid A (AA) and other rare forms of amyloidosis were eligible. Data regarding amyloidosis prevalence, diagnosis, management, and impact on everyday life were collected using a study-specific survey built by the Association Française Contre l’Amylose (AFCA) and the four French National Referral Centres for Amyloidosis.ResultsA total of 603 patients, predominantly male (65%) with an average age of 66.8 years, including 170 AL, 224 ATTRv, 109 ATTRwt and 25 AA amyloidosis patients, completed the study-specific survey. The median delay from presentation to confirmed diagnosis was 27.4 months but varied according to amyloidosis type. Patients before diagnosis had breathlessness (49%), tingling sensation (33%), pain (28%), difficulty in walking (28%) and weight loss (22%). Amyloidosis was most frequently suspected (49%) and confirmed (57%) in local hospitals but managed in French amyloidosis referral centres (58%). Patients often reported problems with mobility, usual activities, pain/discomfort and anxiety/depression, but not with self-care.ConclusionsSystemic amyloidosis severely impacts daily life. The delay to confirmed amyloidosis diagnosis needs to be reduced. Early, effective treatment is required to optimise patient benefits.
Published: 2022

2. HCV-related lymphoproliferative disorders in the direct-acting antiviral era: From mixed cryoglobulinaemia to B-cell lymphoma

Author: Matheus Vieira, Cloé Comarmond, D. Saadoun, Paul Régnier, Patrice Cacoub, Service de médecine interne et d'immunologie clinique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de Référence Maladies auto-immunes Systémiques Rares [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Departement Hospitalo- Universitaire - Inflammation, Immunopathologie, Biothérapie [Paris] (DHU - I2B), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Saint-Antoine [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP]
Subjects: Lymphoma, B-Cell, Hepatitis C virus, Lymphoproliferative disorders, lymphoma, Hepacivirus, medicine.disease_cause, Antiviral Agents, cryoglobulinemia, vasculitis, extrahepatic manifestation, 03 medical and health sciences, 0302 clinical medicine, HCV (Hepatitis C), hemic and lymphatic diseases, medicine, Humans, B-cell lymphoma, Cryoglobulinemic vasculitis, B cell, 030304 developmental biology, 0303 health sciences, treatment, Hepatology, business.industry, medicine.disease, Cryoglobulinemia, Lymphoproliferative Disorders, 3. Good health, Lymphoma, direct acting-antivirals (DAA), medicine.anatomical_structure, 030220 oncology & carcinogenesis, Immunology, lymphoproliferative disorder, Vasculitis, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Hepatitis C virus (HCV) has been shown to induce many B-cell lymphoproliferative disorders. B lymphocytes are specialized in producing immunoglobulins, and within chronic HCV infection they can cause a range that goes from polyclonal hypergammaglobulinemia without clinical repercussions, passing by mixed cryoglobulinemic vasculitis and eventually reaching B-cell non-Hodgkin lymphoma. This spectrum is supported by substantial epidemiological, pathophysiological and therapeutic data. Many, although not all, pathogenic pathways leading from one extreme to another have been decrypted. Chronic viral antigen stimulation of B lymphocytes has a central role until the last steps towards overt malignancy. This has direct implications in treatment strategies, which always include the use of direct-acting antiviral agents sometimes associated with immunosuppressants. The role of direct-acting antiviral agents has been well established in patients with cryoglobulinemia vasculitis. Its positive impact on B cell non-Hodgkin lymphoma needs to be confirmed in larger studies with longer follow-up.
Published: 2022

3. Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis

Author: Samuel Deshayes, Thibault Fraisse, Soraya Fellahi, Olivier Steichen, Léa Savey, Bruno Turlin, Mona Munteanu, Achille Aouba, Rim Bourguiba, Véronique Hentgen, Jean-Manuel Faintuch, Irina Giurgea, Gilles Grateau, Jean-Philippe Bastard, Sophie Georgin-Lavialle, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Paris Center for Microbiome Medicine (FHU PaCeMM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Caen Normandie - UFR Santé (UNICAEN Santé), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Physiopathologie et Stratégies d'Imagerie du Remodelage cardiovasculaire (PSIR), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Henri Mondor, Service d'anatomopathologie [Rennes], Hôpital Pontchaillou, Centre Hospitalier de Versailles André Mignot (CHV), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Service d'Imageries Radiologiques et Interventionnelles [CHU Tenon] (IRIS), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Molecular virology and immunology – Physiopathology and therapeutic of chronic viral hepatitis (Team 18) (Inserm U955), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Couvet, Sandrine, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Sorbonne Université (SU), CHU Henri Mondor [Créteil], and Maladies génétiques d'expression pédiatrique (U933)
Subjects: Adult, MESH: Mutation, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV]Life Sciences [q-bio], MESH: Pyrin, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Humans, Multidisciplinary, MESH: Humans, MESH: Middle Aged, MESH: Familial Mediterranean Fever, MESH: Adult, Middle Aged, Pyrin, Fibrosis, Familial Mediterranean Fever, [SDV] Life Sciences [q-bio], MESH: Colchicine, Liver, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, MESH: Fibrosis, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Colchicine, MESH: Female, MESH: Liver
Abstract: Familial Mediterranean fever (FMF) patients may have hepatic cytolysis, although its origin is not formally elucidated. We aimed to evaluate liver involvement in familial Mediterranean fever (FMF) using non-invasive methods. All adult FMF patients harboring two non-ambiguous mutations of the MEFV gene with hepatic cytolysis were identified in a French tertiary adult center for FMF. Liver impairment was explored with FibroMax (a non-invasive method to estimate hepatic steatosis, necrosis, inflammation and fibrosis) and liver ultrasound. Among 520 FMF adult patients, 43 had persistent hepatic cytolysis and 20 patients were included (11 women, median age at inclusion: 49.5 years). According to the FibroMax results, patients were classified as having steatosis, fibrosis, and possible or definite nonalcoholic steato-hepatitis in 10 (50%), 9 (45%) and 7 (35%) of cases, respectively. The score of steatosis did not seem associated with the usual metabolic risk factors. No significant association was found between the cumulated dose of colchicine and any of the scores included in FibroMax. In adult FMF patients with persistent hepatic cytolysis, steatosis is the first cause to consider even in the absence of usual metabolic risk factors, suggesting other mechanisms. Colchicine did not seem to be involved in this toxicity.
Published: 2022

4. Le syndrome de fièvre prolongée associée aux mutations du gène du récepteur au TNF de type 1 : un diagnostic différentiel de la fièvre méditerranéenne familiale à ne pas méconnaître chez les patients d’origine méditerranéenne

Author: Gilles Grateau, Olivier Fain, Achille Aouba, Sophie Georgin-Lavialle, Véronique Hentgen, R. Bourguiba, Nicolas Martin-Silva, Irina Giurgea, Samuel Deshayes, A Desdoits, Léa Savey, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de médecine interne [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de médecine interne [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Service de Pédiatrie Médicale [Caen], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], and Dupuis, Christine
Subjects: myalgia, Autoinflammatory disease, medicine.medical_specialty, Abdominal pain, MESH: Mutation, TNFRSF1A, [SDV]Life Sciences [q-bio], Fièvre méditerranéenne familiale, Familial Mediterranean fever, AA amyloidosis, Hereditary recurrent fever, MESH: Diagnosis, Differential, MESH: Fever, Internal Medicine, medicine, Index case, MESH: Receptors, Tumor Necrosis Factor, Type I, MESH: Humans, business.industry, Gastroenterology, Maladie auto-inflammatoire, MESH: Familial Mediterranean Fever, TRAPS, medicine.disease, Dermatology, [SDV] Life Sciences [q-bio], Syndrome périodique associé aux mutations du récepteur du facteur de nécrose tumorale de type 1 (TRAPS), MESH: Hereditary Autoinflammatory Diseases, medicine.symptom, Differential diagnosis, Age of onset, business, Periodic fever syndrome, Fièvre récurrente héréditaire
Abstract: Introduction: Tumor Necrosis Factor Type 1 Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant autosomal autoinflammatory disease associated with mutations in the TNF type 1 receptor gene (TNFRSF1A). It is characterized by relatively long recurrent febrile seizures with an average duration of 7 days accompanied by arthralgia, myalgia, and usually a rash. In a patient of Mediterranean origin with recurrent fever, familial Mediterranean fever is the first diagnosis to be suspected by argument of frequency.Methods: A retrospective observational study was conducted on patients from Mediterranean origin followed for TRAPS and included in the "Juvenile Inflammatory Rheumatism" (JIR) observational cohort in the national French autoinflammatory center. The age of onset of symptoms, age of diagnosis, number of years of wandering and treatments received were collected for each index case.Results: Nine patients from 6 families of Mediterranean origin were included. A molecular diagnosis confirmed TRAPS in all patients. The median age at diagnosis was 26 years, the mean number of years of wandering was 17 years. The diagnosis of FMF was made first in all patients. AA amyloidosis revealed TRAPS in 2 patients. Colchicine was started without any efficacy in all cases. Five patients were treated with interleukin-1 inhibitory biotherapy with 100% efficacy.Conclusion: In a patient of Mediterranean origin presenting with recurrent febrile abdominal pain of AA amyloidosis, the first diagnosis to be suspected is FMF. Long relapses, dominant transmission, a non-Mediterranean relative, and the ineffectiveness of colchicine should evoke TRAPS., IntroductionLe syndrome périodique associé aux mutations du récepteur du facteur de nécrose tumorale de type 1 (TRAPS) est une maladie auto-inflammatoire autosomique dominante rare associée à des mutations du gène du récepteur de type 1 du TNF (TNFRSF1A). Elle se caractérise par des douleurs abdominales fébriles récurrentes relativement longues accompagnées d’arthromyalgies. Le principal diagnostic différentiel est la fièvre méditerranéenne familiale (FMF).MéthodesÉtude observationnelle rétrospective sur les patients d’origine Méditerranéenne suivis pour TRAPS et inclus dans la cohorte observationnelle « Juvenile Inflammatory Rheumatism » (JIR) L’âge du début des symptômes, l’âge du diagnostic, le nombre d’années d’errance et les traitements reçus ont été recueillis pour chaque cas index.RésultatsNeuf patients issus de 6 familles ont été inclus ; un diagnostic moléculaire avait confirmé le TRAPS chez tous. L’âge médian au diagnostic était de 26 ans, le nombre moyen d’année d’errance était de 17 ans. Le diagnostic de FMF avait été porté en premier lieu chez tous les patients. L’amylose AA a révélé le TRAPS chez 2 patients. La colchicine a été débutée sans aucune efficacité dans tous les cas. Cinq patients ont été traités par une biothérapie inhibant l’interleukine-1 avec une efficacité de 100 %.ConclusionChez un patient d’origine méditerranéenne présentant des douleurs abdominales fébriles récurrentes plus ou moins compliquées d’amylose AA, le premier diagnostic à évoquer est la FMF. Des poussées longues, une transmission d’allure dominante, un parent non méditerranéen, et l’inefficacité de la colchicine doivent faire évoquer le TRAPS.
Published: 2021

5. Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study

Author: Nathalie Franck, Nicolas Dupin, A. Bonhomme, Floriane Kouby, Guilaine Boursier, Viviane Queyrel, Gabrielle Goldman-Lévy, Annick Barbaud, Isabelle Touitou, Stéphanie Ducharme-Bénard, Guillaume Sarrabay, Groupe d'étude des maladies systémiques en dermatologie, Sophie Georgin-Lavialle, Antoine Fayand, Didier Bessis, Camille Francès, François Chasset, Philippe Moguelet, Sylvie Fraitag, Service de dermatologie et allergologie [CHU Tenon], CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), Service d'Anatomie et cytologie pathologiques [CHU Tenon], Centre hospitalier régional Metz-Thionville (CHR Metz-Thionville), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Hôpital l'Archet, Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Groupe d'étude des maladies systémiques en dermatologie and Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire, CCSD, Accord Elsevier, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d’Anatomie et cytologie pathologiques [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Université de Montpellier (UM)
Subjects: Adult, medicine.medical_specialty, Adolescent, Adenosine Deaminase, Biopsy, [SDV]Life Sciences [q-bio], MEDLINE, Dermatology, Young Adult, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Young adult, Child, Pathological, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Skin, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Hereditary Autoinflammatory Diseases, Retrospective cohort study, ADENOSINE DEAMINASE 2, medicine.disease, Polyarteritis Nodosa, 3. Good health, Adenosine deaminase deficiency, [SDV] Life Sciences [q-bio], Intercellular Signaling Peptides and Proteins, Observational study, business
Abstract: International audience; No abstract available
Published: 2020

6. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review

Author: François Rodrigues, Laurence Cuisset, Bérangère Cador-Rousseau, Irina Giurgea, Benedicte Neven, David Buob, Pierre Quartier, Eric Hachulla, Thierry Lequerré, Gérard Cam, Guilaine Boursier, Valérie Hervieu, Gilles Grateau, Sophie Georgin-Lavialle, Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pontchaillou [Rennes], UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO), Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CH de Saint-Malo [Broussais], CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), Hôpital Edouard Herriot [Lyon], Hospices Civils de Lyon (HCL)-Groupement Hospitalier Centre [Lyon], Sorbonne Université (SU), Couvet, Sandrine, Maladies génétiques d'expression pédiatrique (U933), Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Hôpital Edouard Herriot [CHU - HCL], and Hospices Civils de Lyon (HCL)
Subjects: Adult, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV]Life Sciences [q-bio], Amyloidosis, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Cryopyrin-Associated Periodic Syndromes, Cryopyrin associated periodic syndrome (CAPS), [SDV] Life Sciences [q-bio], IL1 inhibitors, Rheumatology, NLRP3, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NLR Family, Pyrin Domain-Containing 3 Protein, Mutation, AA amyloidosis, Humans, [SDV.IMM]Life Sciences [q-bio]/Immunology, Pharmacology (medical), Retrospective Studies, Interleukin-1
Abstract: Objective Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and chronic infantile neurologic cutaneous articular syndrome (CINCA). Our objective was to describe the main features of CAPS AA amyloidosis (AA-CAPS) associated and the efficacy of IL-1 inhibitors in this indication. Methods Retrospective study in France associated with a systematic literature review. Results Eighty-six patients were identified: 23 new French cases and 63 from the literature, with a median age at amyloidosis diagnosis of 39 years old. CAPS subtypes were MWS (n = 62), FCAS (n = 9), frontier forms between MWS and FCAS (n = 12) and between CINCA and MWS (n = 3). NLRP3 had been sequenced in 60 patients (70%) and the most frequent mutation was R260W (60%). Three AA-CAPS patients displayed somatic NLRP3 mutations. Death occurred in 35 patients (41%), none of whom having ever received IL-1 inhibitors. Twenty-eight patients (33%) received IL-1 inhibitors, with a >50% decrease in proteinuria in 89% of cases. Conclusion AA amyloidosis can occur in nearly all CAPS subtypes. IL-1 inhibitors are effective, underlining the necessity of an early diagnosis of CAPS in order to start this treatment as soon as possible among AA-CAPS patients.
Published: 2022

7. Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study

Author: Safa Aouinti, Isabelle Touitou, Guilaine Boursier, Thibault Mura, Isabelle Koné-Paut, Mélanie Rama, Guillaume Sarrabay, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département d'Information Médicale [CHRU Montpellier], Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), and Salvy-Córdoba, Nathalie
Subjects: Male, 0301 basic medicine, Sanger sequencing, Genetic testing, medicine.disease_cause, law.invention, MESH: Genotype, 0302 clinical medicine, Randomized controlled trial, law, Genotype, Immunology and Allergy, Prospective Studies, Targeted next-generation sequencing, MESH: High-Throughput Nucleotide Sequencing, Mutation, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, MEFV, symbols, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Adult, medicine.medical_specialty, [SDV.IMM] Life Sciences [q-bio]/Immunology, Immunology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, DNA sequencing, 03 medical and health sciences, symbols.namesake, Internal medicine, medicine, Humans, Gene, MESH: Humans, business.industry, Hereditary Autoinflammatory Diseases, MESH: Adult, Original Articles, MESH: Male, MESH: Prospective Studies, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Hereditary Autoinflammatory Diseases, business, MESH: Female, 030215 immunology
Abstract: Summary The aim of this study was to compare the effectiveness of the gene-panel next-generation sequencing (NGS) strategy versus the clinical-based gene Sanger sequencing for the genetic diagnosis of autoinflammatory diseases (AIDs). Secondary goals were to describe the gene and mutation distribution in AID patients and to evaluate the impact of the genetic report on the patient's medical care and treatment. Patients with AID symptoms were enrolled prospectively and randomized to two arms, NGS (n = 99) (32–55 genes) and Sanger sequencing (n = 197) (one to four genes). Genotypes were classified as ‘consistent/confirmatory’, ‘uncertain significance’ or ‘non-contributory’. The proportion of patients with pathogenic genotypes concordant with the AID phenotype (consistent/confirmatory) was significantly higher with NGS than Sanger sequencing [10 of 99 (10·1%) versus eight of 197 (4·1%)]. MEFV, ADA2 and MVK were the most represented genes with a consistent/confirmed genotype, whereas MEFV, NLRP3, NOD2 and TNFRSF1A were found in the ‘uncertain significance’ genotypes. Six months after the genetic report was sent, 54 of 128 (42·2%) patients had received effective treatment for their symptoms; 13 of 128 (10·2%) had started treatment after the genetic study. For 59 of 128 (46%) patients, the results had an impact on their overall care, independent of sequencing group and diagnostic conclusion. Targeted NGS improved the diagnosis and global care of patients with AIDs.
Published: 2020

8. The French paediatric cohort of Castleman disease: a retrospective report of 23 patients

Author: Caroline Galeotti, Jérémie Delaleu, Claire Ballot-Schmit, Charlotte Borocco, Eric Jeziorski, Eric Oksenhendler, Isabelle Koné-Paut, Yves Perel, Sarah Jannier, Nathalie Aladjidi, Vannina Giacobbi-Milet, Oanez Ackermann, François Maurier, Christophe Piguet, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital JeanMinjoz, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pédiatrie [CH Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Hôpital de Hautepierre [Strasbourg], Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Hôpitaux Privés de Metz (HPMetz), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Michel-Avella, Amandine
Subjects: Adult, medicine.medical_specialty, Adolescent, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Splenectomy, lcsh:Medicine, Context (language use), Gene mutation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tocilizumab, Internal medicine, Unicentric, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Retrospective Studies, Anakinra, business.industry, Castleman disease, Castleman Disease, Interleukins, Research, Paediatric Castleman disease, lcsh:R, General Medicine, Pyrin, medicine.disease, MEFV, [SDV] Life Sciences [q-bio], chemistry, Multicentric, 030220 oncology & carcinogenesis, Rituximab, Female, France, Lymph Nodes, business, 030215 immunology, medicine.drug
Abstract: Background Castleman disease (CD) is a rare non-malignant lymphoproliferation of undetermined origin. Two major disease phenotypes can be distinguished: unicentric CD (UCD) and multicentric CD (MCD). Diagnosis confirmation is based on histopathological findings in a lymph node. We attempted to survey all cases of paediatric CD identified to date in France to set up a national registry aiming to improve CD early recognition, treatment and follow-up, within the context of a new national reference center (http://www.castleman.fr). Methods In 2016, we e-mailed a questionnaire to members of the French paediatric immunohaematology society, the paediatric rheumatology society and the Reference Centre for Castleman Disease to retrospectively collect cases of paediatric CD (first symptoms before age 18 years). Anatomopathological confirmation was mandatory. Results We identified 23 patients (12 girls) with a diagnosis of UCD (n = 17) and MCD (n = 6) between 1994 and 2018. The mean age at first symptoms was 11.47 ± 4.23 years for UCD and 8.3 ± 3.4 years for MCD. The mean diagnosis delay was 8.16 ± 10.32 months for UCD and 5.16 ± 5.81 years for MCD. In UCD, the initial symptoms were isolated lymph nodes (n = 10) or lymph node associated with other symptoms (n = 7); fever was present in 3 patients. Five patients with MCD presented fever. No patients had HIV or human herpesvirus 8 infection. Autoinflammatory gene mutations were investigated in five patients. One patient with MCD carried a K695R heterozygous mutation in MEFV, another patient with MCD and Duchenne myopathy carried two variants in TNFRSF1A and one patient with UCD and fever episodes carried two heterozygous mutations, in IL10RA and IL36RN, respectively. Treatment of UCD was mainly surgical resection, steroids, and radiotherapy. Treatment of MCD included tocilizumab, rituximab, anakinra, steroids, chemotherapy, and splenectomy. Overall survival after a mean of 6.1 ± 6.4 years of follow-up, was 100% for both forms. Conclusion Paediatric CD still seems underdiagnosed, with a significant diagnosis delay, especially for MCD, but new international criteria will help in the future. Unlike adult CD, which is strongly associated with HIV and human herpesvirus 8 infection, paediatric CD could be favored by primary activation of innate immunity and may affect life expectancy less.
Published: 2020

9. Autoinflammation liée à l’haploinsuffisance A20 : identification et caractérisation fonctionnelle de nouveaux variants A20

Author: El Khouri, Elma, Louvrier, Camille, Assrawi, Eman, Nguyen, Alexandre, Piterboth, William, Copin, Bruno, Dastot - Le Moal, Florence, Georgin-Lavialle, Sophie, Leguy, Vanessa, Kone-Paut, I., Aouba, Achille, Karabina, Sonia Athina, Amselem, Serge, Giurgea, Irina, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Caen Normandie (UNICAEN), Normandie Université (NU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Paris-Saclay, and Couvet, Sandrine
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN] Life Sciences [q-bio]/Genetics
Abstract: A20 est une enzyme d'édition de l'ubiquitine codée par le gène A20 (ou TNFAIP3, tumor necrosis factor a-induced portien 3). A travers son activité E3 ligase et déubiquitinase, A20 régule plusieurs substrats de la voie NF-kappaB, tels que RIP1, NEMO et TRAF6. La protéine A20 joue un rôle central dans la régulation de l'inflammation et de l'immunité en inhibant cette voie de signalisation. Les premières mutations d’A20 décrites en 2016 conduisaient à une haploinsuffisance, donnant ainsi le nom haploinsuffisance A20 (HA20) à cette maladie auto-inflammatoire (MAI) de transmission autosomique dominante. Le phénotype de HA20 est partiellement chevauchant avec celui de la maladie de Behçet mais se caractérise par un âge de début de maladie précoce ; il associe des accès récurrents de fièvre, des ulcères buccaux et génitaux, une atteinte gastro-intestinale avec diarrhée, des arthralgies ou polyarthrites et des uvéites antérieures bilatérales. Avec plus de 25 mutations tronquantes de A20 rapportées à ce jour, HA20 est une MAI monogénique fréquemment diagnostiquée. Cependant, la signification pathogénique des variations faux-sens de A20 a été peu étudiée est reste difficile à établir. Dans cette étude, nous avons identifié chez six patients indépendants présentant une MAI, cinq nouvelles variations de A20 dont le retentissement fonctionnel a été évalué par des tests cellulaires in vitro : deux variations responsables d’un décalage de cadre de lecture et trois faux-sens. Les deux variations tronquantes c.716dup (p.Ala240Cysfs*14) et c.1504del (p.Arg502Glyfs*195), entraînent une haploinsuffisance due à une dégradation des transcrits A20 par non-sens mRNA decay. La variation faux-sens c.707T>C (p.Leu236Pro) (de classe 3 selon les recommandations de l’American College of Medical Genetics), est responsable d’une dégradation accrue de la protéine mutée (suivi de la stabilité de la protéine et de la dégradation par le protéasome). La baisse d’expression de la protéine A20-Leu236Pro a été par ailleurs confirmée dans les PBMCs provenant des patients. En plus du défaut d’expression, la protéine A20-Leu236Pro présente un défaut fonctionnel avec une moindre suppression de l'activité NF-kappaB que la protéine A20 normale. Quant aux deux autres variations faux-sens identifiées : c.464C>T (p.Thr155Met) et c.237C>G (p.Ser79Arg), de classe 3 également, elles n’étaient responsables d’aucune anomalie dans les tests in vitro utilisés (étude de l’expression de la protéine et de l’activité NF-kappaB). Au total, cette étude souligne l’importance d’évaluer le retentissement fonctionnel des variations faux-sens identifiées dans le gène A20 chez les patients chez qui un diagnostic de HA20 est suspecté : les résultats de ces analyses conditionnent la prise en charge thérapeutique des patients et le conseil génétique.
Published: 2022

10. USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still’s Disease in Elderly Patients

Author: Achille Aouba, Julien Rossignol, Matthieu Mahévas, Damien Roos-Weil, Pierre Hirsch, Anna Sevoyan, Yervand Hakobyan, Sébastien Miranda, Louis Terriou, Julie Graveleau, Gwenola Maigne, Matthieu Groh, Thomas Quemeneur, Florent Malard, Marie Sebert, Sophie Georgin-Lavialle, Artem Oganesyan, Arsène Mekinian, Nabil Belfeki, Pierre Fenaux, Matthieu Decamp, Laurent Sailler, Louis Drevon, M. Delplanque, Jerome Razanamahery, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], Service de médecine interne [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service d'immunologie et hématologies biologiques [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier de Saint-Nazaire, Service d'Hématologie Biologique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Centre hospitalier Marc Jacquet (Melun), National Academy of Sciences of the Republic of Armenia [Yerevan] (NAS RA), Hôpital Foch [Suresnes], Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de Génétique [CHU Caen], Service de Médecine Interne [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre hospitalier [Valenciennes, Nord], CHU Necker - Enfants Malades [AP-HP], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de médecine interne [CHU Saint-Antoine], HAL-SU, Gestionnaire, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Médecine Interne [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], CHU Toulouse [Toulouse], and Service de Médecine Interne [CHU Saint-Antoine]
Subjects: medicine.medical_specialty, Chronic myelomonocytic leukemia, Disease, adult-onset Still's disease, SAID, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tocilizumab, Internal medicine, hemic and lymphatic diseases, Atypia, USAID, adult-onset Still’s disease, Medicine, VEXAS, azacytidine, myelodysplastic syndrome, 030203 arthritis & rheumatology, Anakinra, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Myeloid leukemia, Retrospective cohort study, General Medicine, medicine.disease, Infliximab, 3. Good health, chemistry, 030220 oncology & carcinogenesis, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
Abstract: International audience; Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still’s disease (AOSD). The newly described VEXAS, associated with somatic UBA1 mutations, exhibits an overlap of clinical and/or biological pictures with auto inflammatory signs and myelodysplastic syndrome (MDS). Objectives: To describe a cohort of patients with signs of undifferentiated systemic autoinflammatory disorder (USAID) concordant with AOSD and MDS/chronic myelomonocytic leukemia (CMML) and the prevalence of VEXAS proposed management and outcome. Methods: A French multicenter retrospective study from the MINHEMON study group also used for other published works with the support of multidisciplinary and complementary networks of physicians and a control group of 104 MDS/CMML. Results: Twenty-six patients were included with a median age at first signs of USAID of 70.5 years with male predominance (4:1). Five patients met the criteria for confirmed AOSD. The most frequent subtypes were MDS with a blast excess (31%) and MDS with multilineage dysplasia (18%). Seven patients presented with acute myeloid leukemia and twelve died during a median follow-up of 2.5 years. Six out of 18 tested patients displayed a somatic UBA1 mutation concordant with VEXAS, including one woman. High-dose corticosteroids led to a response in 13/16 cases and targeted biological therapy alone or in association in 10/12 patients (anakinra, tocilizumab, and infliximab). Azacytidine resulted in complete or partial response in systemic symptoms for 10/12 (83%) patients including 3 VEXAS. Conclusions: Systemic form of VEXAS syndrome can mimic AOSD. The suspicion of USAID or AOSD in older males with atypia should prompt an evaluation of underlying MDS and assessment of somatic UBA1 mutation.
Published: 2021

11. Title: AA amyloidosis complicating monoclonal gammopathies, an unusual feature validating the concept of 'monoclonal gammopathy of inflammatory significance'? Authors: Alexandre Terré¹ , ¹³ https://orcid.org/0000-0002-8295-9068, Magali Colombat²

Author: Terré, Alexandre, Colombat, Magali, Cez, Alexandre, Martin, Claire, Diet, Carine, Brechignac, Sabine, Oghina, Silvia, Bodez, Diane, Faguer, Stanislas, Savey, Léa, Galland, Joris, Boffa, Jean‐jacques, Grateau, Gilles, Jaccard, Arnaud, Buob, David, Georgin‐lavialle, Sophie, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), CHU Toulouse [Toulouse], Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Saint-Louis de La Rochelle (CH La Rochelle), CHU Henri Mondor, Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre cardiologique du Nord (CCN), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Dupuytren [CHU Limoges], Service de Pathologie [CHU Tenon], HAL-SU, Gestionnaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Département de Néphrologie = Service de Néphrologie et Dialyses [CHU Tenon], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Monoclonal gammopathies, Mass-spectrometry, AL amyloidosis, paraproteinemia, AA amyloidosis and monoclonal gammopathies AA amyloidosis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; IntroductionAL amyloidosis is caused by the proliferation of an immunoglobulin-secreting B cell clone. AA amyloidosis is a rare complication of chronic inflammation. However, some patients present with diseases combining monoclonal immunoglobulin production and chronic inflammation. The aim of this work was to describe cases of AA amyloidosis associated with monoclonal gammopathies.Patients and methodsWe reviewed all patients reported in French national amyloid centres presenting with AA amyloidosis and monoclonal gammopathy and performed a literature review. The quality of AA amyloidosis diagnosis and the causal relationship with monoclonal gammopathy were assessed.ResultsIn total, four patients from our centres and eight from the literature fulfilled the inclusion criteria. The haematological disorders presenting with monoclonal gammopathy were as follows: Waldenström macroglobulinaemia (n = 8), Schnitzler syndrome (n = 2), multiple myeloma (n = 1) and monoclonal gammopathy of undetermined significance (n = 1). Treatment strategies varied among the cases, with the treatment of the haematological disorder in 4 and anti-inflammatory treatment in 2.ConclusionMonoclonal gammopathies might be a rare and poorly known cause of AA amyloidosis. Such monoclonal gammopathies could be named “monoclonal gammopathies of inflammatory significance.”
Published: 2021

12. Limites nosologiques entre fièvre méditerranéenne familiale et spondylarthrite juvénile : analyse de trois cohortes rétrospectives françaises

Author: Isabelle Touitou, Sophie Georgin-Lavialle, Linda Rossi-Semerano, Caroline Galeotti, Bilade Cherqaoui, Véronique Hentgen, P. Dusser, Isabelle Koné-Paut, Maryam Piram, Service de rhumatologie, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
Subjects: 030203 arthritis & rheumatology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, [SDV]Life Sciences [q-bio], 030212 general & internal medicine
Abstract: Resume Objectifs La fievre mediterraneenne familiale peut se presenter sous la forme d’atteintes musculo-squelettiques, ce qui peut la rendre difficile a differencier d'une spondylarthrite juvenile. La survenue conjointe des deux pathologies etant rarement decrite en pediatrie, l’objectif de ce travail etait de preciser l’existence d’une association ou d’un chevauchement entre fievre mediterraneenne familiale et spondylarthrite juvenile en France. Methodes Trois cohortes d’enfants, atteints de fievre mediterraneenne familiale, ou atteints de spondylarthrite juvenile, ou ayant des criteres pour les deux pathologies, ont ete identifiees retrospectivement dans le centre de reference francais des maladies auto-inflammatoires et des amyloses inflammatoires du CHU de Bicetre. La fievre mediterraneenne familiale etait definie selon les criteres de Tel Hashomer ou les criteres pediatriques turcs et la presence d’au moins un variant de l’exon 10 du gene MEFV. La spondylarthrite juvenile etait definie selon les criteres de l’ILAR. Les patients atteints de fievre mediterraneenne familiale ou de spondylarthrite juvenile ont ete compares a ceux presentant des criteres pour les deux pathologies. Resultats Seize enfants atteints de spondylarthrite juvenile associee a la fievre mediterraneenne familiale ont ete identifies. Le ratio garcon/fille etait de 0,6 et l’âge median a l’apparition de la spondylarthrite de 7,5 ans (3-16 ans). Tous presentaient au moins un variant M694V sur le gene MEFV et 16,7 % etaient porteurs de l’antigene HLA-B27. Comparativement a 83 patients atteints de fievre mediterraneenne familiale, ceux atteints de spondylarthrite juvenile associee a la fievre mediterraneenne familiale presentaient : moins de fievre (p Conclusions La fievre mediterraneenne familiale peut etre associee a un tableau classique de la spondylarthrite juvenile. Chez les enfants porteurs d’une fievre mediterraneenne familiale associee a une spondylarthrite juvenile, qui repondent moins bien a la colchicine, le diagnostic de spondylarthrite doit etre pose plus precocement pour introduire au besoin des anti-inflammatoires non steroidiens ou des anti-TNF.
Published: 2019

13. Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

Author: Jean Baptiste Picque, Alexandre Terré, Sophie Georgin-Lavialle, Alexis Talbot, Serge Amselem, Irina Giurgea, Camille Louvrier, Matthieu Mahévas, Gilles Grateau, David Boutboul, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Centre Hospitalier d'Auxerre, CHU Henri Mondor, Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], French Network of Dysimmune Disorders Associated with Hemopathies, and Couvet, Sandrine
Subjects: Adult, Male, medicine.medical_specialty, Fever, Immunology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, PARAPROTEINEMIAS, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Recurrence, Median frequency, medicine, Humans, Immunology and Allergy, Aged, Retrospective Studies, 030203 arthritis & rheumatology, SCHNITZLER SYNDROME, business.industry, Antibodies, Monoclonal, INNATE IMMUNE RESPONSE, Retrospective cohort study, Syndrome, Middle Aged, medicine.disease, Autoinflammatory Syndrome, Paraproteinemias, Arthralgia, Dermatology, Interleukin 1 Receptor Antagonist Protein, Monoclonal gammopathy, C-Reactive Protein, Treatment Outcome, Schnitzler syndrome, Immunoglobulin M, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Recurrent fever, Immunoglobulin G, Female, medicine.symptom, business, Follow-Up Studies
Abstract: Objective.To describe a new autoinflammatory syndrome with recurrent fever and monoclonal gammopathy that differs from Schnitzler syndrome.Methods.We conducted a retrospective study of patients with monoclonal gammopathy and recurrent fever of unknown origin.Results.Five patients were studied; median age at onset of symptoms was 44 years. Median frequency of fever attacks was 6 episodes per year. In the absence of treatment, the median duration of fevers was 3 days.Conclusion.This new autoinflammatory syndrome is defined by an association among monoclonal gammopathy, arthralgias, and recurrent fever.
Published: 2019

14. Autoinflammatory diseases: State of the art

Author: Antoine Fayand, Léa Savey, Sophie Georgin-Lavialle, François Rodrigues, Gilles Grateau, Claude Bachmeyer, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), and Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: 0301 basic medicine, [SDV]Life Sciences [q-bio], Familial Mediterranean fever, Still Disease, 03 medical and health sciences, 0302 clinical medicine, Immune system, Humans, Medicine, 030203 arthritis & rheumatology, Mevalonate kinase deficiency, business.industry, Hereditary Autoinflammatory Diseases, Autoantibody, Disease Management, General Medicine, Adenitis, medicine.disease, Pharyngitis, 3. Good health, Phenotype, 030104 developmental biology, Immunology, medicine.symptom, business, Periodic fever syndrome
Abstract: Autoinflammatory diseases are characterized by innate immunity abnormalities. In autoinflammatory diseases (AID), inflammatory blood biomarkers are elevated during crisis without infection and usually without autoantibodies. The first 4 described AID were familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinflammatory disease (NRLP3-AID), mevalonate kinase deficiency (MKD) and TNFRSF1A-receptor associated periodic fever syndrome (TRAPS). Since their description 20 years ago, and with the progresses of genetic analysis, many new diseases have been discovered; some with recurrent fever, others with predominant cutaneous symptoms or even immune deficiency. After describing the 4 historical recurrent fevers, some polygenic inflammatory diseases will also be shortly described such as Still disease and periodic fever with adenitis, pharyngitis and aphtous (PFAPA) syndrome. To better explore AID, some key anamnesis features are crucial such as the family tree, the age at onset, crisis length and organs involved in the clinical symptoms. An acute phase response is mandatory in crisis.
Published: 2019

15. SARS-CoV-2 outbreak in immune-mediated inflammatory diseases: the Euro-COVIMID multicentre cross-sectional study

Author: José María Alvaro Gracía, Bruno Fautrel, Mathieu Vautier, David Saadoun, José António Pereira da Silva, Patrice Cacoub, Alessandra Bortoluzzi, Henry Penn, Nikita Khmelinskii, Juan Carlos Nieto Gonzalez, Laure Gossec, Shahir Hamdulay, Isabel Castrejón, Carlo Alberto Scirè, Marlene Sousa, I. Andreica, Mariana Luís, Ettore Silvagni, Xenofon Baraliakos, Matheus Vieira, Pedro Machado, Matthieu Resche-Rigon, Saadoun, D, Vieira, M, Vautier, M, Baraliakos, X, Andreica, I, da Silva, J, Sousa, M, Luis, M, Khmelinskii, N, Gracia, J, Castrejon, I, Gonzalez, J, Scire, C, Silvagni, E, Bortoluzzi, A, Penn, H, Hamdulay, S, Machado, P, Fautrel, B, Cacoub, P, Resche-Rigon, M, Gossec, L, Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de Référence Maladies auto-immunes Systémiques Rares [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Immunologie - Immunopathologie - Immunothérapie [CHU Pitié Salpêtrière] (I3), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Ruhr University Bochum (RUB), Centro Hospitalar e Universitário [Coimbra], Universidade de Coimbra [Coimbra], Universidade de Lisboa, Hospital General Universitario 'Gregorio Marañón' [Madrid], Università degli Studi di Ferrara = University of Ferrara (UniFE), London North West University Healthcare NHS Trust (LNWH), University College of London [London] (UCL), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Rhumatologie [CHU Pitié Salpêtrière], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gestionnaire, Hal Sorbonne Université, and Repositório da Universidade de Lisboa
Subjects: medicine.medical_specialty, Cross-sectional study, business.industry, [SDV]Life Sciences [q-bio], Incidence (epidemiology), Immunology, Outbreak, Articles, Disease, Odds ratio, medicine.disease, NO, [SDV] Life Sciences [q-bio], Rheumatology, Internal medicine, Epidemiology, medicine, Immunology and Allergy, Seroprevalence, Immune-mediated inflammatory diseases, business, rheumatic disease, COVID
Abstract: © 2021 Elsevier Ltd. All rights reserved, Background: The COVID-19 pandemic has raised numerous questions among patients with immune-mediated inflammatory diseases regarding potential reciprocal effects of COVID-19 and their underlying disease, and potential effects of immunomodulatory therapy on outcomes related to COVID-19. The seroprevalence of SARS-CoV-2 and factors associated with symptomatic COVID-19 in patients with immune-mediated inflammatory diseases are still unclear. The Euro-COVIMID study aimed to determine the serological and clinical prevalence of COVID-19 among patients with immune-mediated inflammatory diseases, as well as factors associated with COVID-19 occurrence and the impact of the pandemic in its management. Methods: In this multicentre cross-sectional study, patients aged 18 years or older with a clinical diagnosis of rheumatoid arthritis, axial spondyloarthritis, systemic lupus erythematosus, Sjögren's syndrome, or giant cell arteritis were recruited from six tertiary referral centres in France, Germany, Italy, Portugal, Spain, and the UK. Demographics, comorbidities, treatments, and recent disease flares, as well as information on COVID-19 symptoms, were collected through a questionnaire completed by participants. SARS-CoV-2 serology was systematically tested. The main outcome was the serological and clinical prevalence of COVID-19. Factors associated with symptomatic COVID-19 were assessed by multivariable logistic regression, and incidence of recent disease flares, changes in treatments for underlying disease, and the reasons for treatment changes were also assessed. This study is registered with ClinicalTrials.gov, NCT04397237. Findings: Between June 7 and Dec 8, 2020, 3136 patients with an immune-mediated inflammatory disease answered the questionnaire. 3028 patients (median age 58 years [IQR 46-67]; 2239 [73·9%] women and 789 [26·1%] men) with symptomatic COVID-19, serological data, or both were included in analyses. SARS-CoV-2 antibodies were detected in 166 (5·5% [95% CI 4·7-6·4]) of 3018 patients who had serology tests. Symptomatic COVID-19 occurred in 122 (4·0% [95% CI 3·4-4·8]) of 3028 patients, of whom 24 (19·7%) were admitted to hospital and four (3·3%) died. Factors associated with symptomatic COVID-19 were higher concentrations of C-reactive protein (odds ratio 1·18, 95% CI 1·05-1·33; p=0·0063), and higher numbers of recent disease flares (1·27, 1·02-1·58; p=0·030), whereas use of biological therapy was associated with reduced risk (0·51, 0·32-0·82; p=0·0057). At least one disease flare occurred in 654 (21·6%) of 3028 patients. Over the study period, 519 (20·6%) of 2514 patients had treatment changes, of which 125 (24·1%) were due to the pandemic. Interpretation: This study provides key insights into the epidemiology and risk factors of COVID-19 among patients with immune-mediated inflammatory diseases. Overall, immunosuppressants do not seem to be deleterious in this scenario, and the control of inflammatory activity seems to be key when facing the pandemic., Pfizer, Sanofi, Amgen, Galapagos, and Lilly funded this study through unrestricted grants.
Published: 2021

16. Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review

Author: Hélène Vergneault, Alexandre Terré, P.A. Michel, Samuel Ardois, David Buob, Camille Buffet, Léa Savey, A. Dumont, Agathe Pardon, Jean-Jacques Boffa, Gilles Grateau, Sophie Georgin-Lavialle, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pathologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d’Endocrinologie, Métabolisme et Prévention des Risques Cardio-Vasculaires [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Université de Caen Normandie - UFR Santé (UNICAEN Santé), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Sud Francilien, CH Evry-Corbeil, and Service de Néphrologie et Dialyses [CHU Tenon]
Subjects: medicine.medical_specialty, endocrine system, Goiter, endocrine system diseases, medicine.medical_treatment, Familial Mediterranean fever, Malignancy, Renal amyloidosis, Article, 03 medical and health sciences, 0302 clinical medicine, AA amyloidosis, familial Mediterranean fever, medicine, 030212 general & internal medicine, goiter, business.industry, Amyloidosis, Thyroidectomy, General Medicine, medicine.disease, Dysphagia, Dermatology, 3. Good health, 030220 oncology & carcinogenesis, Medicine, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Our aim was to describe the main features of amyloid goiter in adults with amyloidosis secondary to familial Mediterranean fever. Therefore, we analyzed cases from a French cohort of familial Mediterranean fever patients with amyloidosis and from literature review. Forty-two cases were identified: 9 from the French cohort and 33 from literature review. Ninety percent of patients were on hemodialysis for renal amyloidosis before the development of goiter. The goiter grew up rapidly in 88% of cases, 75.6% of patients were euthyroid, 58% displayed dyspnea, and 44.8% dysphagia. Various features were seen on ultrasound, from diffuse to multinodular goiter. When it was performed, fine-needle aspiration biopsy almost always revealed amyloidosis. Thirty-one patients underwent thyroidectomy: to manage compressive symptoms (72%) or rule out malignancy (27%). Histology showed mature adipose tissue in 64% of cases and lymphocytic infiltration in 21.4%. In conclusion, amyloid goiter in familial Mediterranean fever preferentially occurs in patients with end stage renal failure. Fine-needle aspiration biopsy seems to be a sensitive exam for diagnosis, but thyroidectomy remains sometimes necessary to rule out malignancy or release compressive symptoms.
Published: 2021

17. Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review

Author: Achille Aouba, Gilles Grateau, Jean Capron, Hervé Levesque, Léa Savey, Irina Giurgea, Inès Elhani, Serge Amselem, Sophie Georgin-Lavialle, Jean-Christophe Ouallet, Hélène Vergneault, Maelle Le Besnerais, Anael Dumont, Samuel Ardois, Couvet, Sandrine, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], Service de médecine interne [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Médecine Interne [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU), Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital Pellegrin, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Service de Neurologie [CHU Saint-Antoine], and CHU Saint-Antoine [AP-HP]
Subjects: Adult, Mutation rate, medicine.medical_specialty, MEFV, Familial Mediterranean fever, Disease, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Cohort Studies, Multiple sclerosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, business.industry, Amyloidosis, General Medicine, Pyrin, medicine.disease, Interleukin-1β, Demyelinating diseases, Systematic review, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cohort, Mutation, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: International audience; Introduction: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disorder; and leads to the uncontrolled production of interleukin (IL)-1β. Multiple sclerosis (MS) is an inflammatory disease of the central nervous system; and its development seems to be partly correlated with IL-1β levels. It is hypothesized that FMF could be associated with MS. We aim to describe the features of patients displaying both diseases and to investigate the MEFV mutation rate in MS patients.Methods: Patients with definite MS were retrieved from the cohort of FMF patients in the Reference Center for Rare Auto-inflammatory Diseases and Amyloidosis (CEREMAIA). We also performed a systematic literature review of articles from PubMed that were published from 1990 to 2020.Results: Twenty-four patients were included in the case series: five patients (1.3%) from our cohort of 364 and 19 patients from the literature. The sex ratio was 2:1. The mean age at diagnosis of FMF was 19 years old; and that for MS was 29 years old. Seven studies investigating the MEFV mutation rate in MS patients were included. Three studies found a higher mutation rate in MS patients than in the control group.Conclusion: FMF and MS features were comparable to those of patients with unrelated diseases; and MEFV mutation carriage was not positively correlated with MS. However; MS prevalence in FMF patients was higher than was expected in a healthy population. To a lesser extent; FMF prevalence in MS patients was higher than expected in a healthy population and the difference might not be significant. These data suggest that FMF could be associated with MS; and further studies are needed to investigate a potential causal association.
Published: 2021

18. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review

Author: Achille Aouba, Serge Amselem, François Rodrigues, Jérémie Delaleu, Samuel Deshayes, Sophie Georgin-Lavialle, Gilles Grateau, Nicolas Martin Silva, Etienne Rivière, Irina Giurgea, Léa Savey, Marion Rabant, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], Service de médecine interne [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de médecine interne et maladies infectieuses [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Saint-André, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Département de Pathologie [CHU Necker], Université Sorbonne Paris Cité (USPC)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Cité (UPCité), and Couvet, Sandrine
Subjects: 0301 basic medicine, medicine.medical_specialty, Necrosis, Fever, medicine.medical_treatment, TNFRSF1A, DNA Mutational Analysis, Renal function, interleukin 1 receptor antagonist protein, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Gastroenterology, Etanercept, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, AA amyloidosis, Internal medicine, Medicine, Humans, Pharmacology (medical), Renal replacement therapy, Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS), 030203 arthritis & rheumatology, Kidney, Serum Amyloid A Protein, business.industry, Hereditary Autoinflammatory Diseases, Retrospective cohort study, Amyloidosis, DNA, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Receptors, Tumor Necrosis Factor, Type I, Mutation, Tumor necrosis factor alpha, medicine.symptom, business, medicine.drug
Abstract: Objectives TNF receptor-1-associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder associated with mutations in the TNF receptor super family 1 A (TNFRSF1A) gene. AA amyloidosis (AA) is the most severe complication of TRAPS. To study the occurrence and prognosis of AA in TRAPS, we conducted a retrospective study of all French cases and a systematic literature review. Methods This case series includes TRAPS patients followed by our centre from 2000 to 2020 presenting with histologically confirmed AA. We conducted a systematic literature review on the PubMed and EMBASE databases for articles published up to February 2021 following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and using the keywords: amyloidoisis, amyloid, TNF receptor-associated periodic syndrome, TNF receptor-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome, TRAPS, TNFRSF1A, familial hibernian fever and hibernian familial fever. Results A total of 41 TRAPS with AA were studied: three new patients and 38 cases from the literature. AA diagnosis preceded that of TRAPS in 96% of cases, and 17/36 (47%) required renal replacement therapy. Death occurred in 5/36 (14%) with a median follow-up of 23 months. Effect of biologics on AA were available for 21 regimens in 19 patients: 10 improved renal function, seven stabilized and four worsened. Four patients (36% of transplanted patients) relapse AA on kidney graft (only one under etanercept). Conclusion TRAPS is revealed by AA in most cases. Therefore, clinical features of TRAPS should be screened for in AA patients. IL-1 antagonist can help to normalize inflammation and to preserve renal function.
Published: 2020

19. LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

Author: Gaëlle Quiniou, Agnès Duquesne, Michelle Ainouze, Samir Merabet, Mathias Faure, Sébastien Viel, Flora Magnotti, Jonathan Reboulet, Yanick J. Crow, Cécile Dumaine, Jean-Paul Larbre, Thomas Henry, Thierry Walzer, Gillian I. Rice, Tilmann Kallinich, Rémi Pescarmona, Sophie Georgin-Lavialle, Guillaume Sarrabay, Marion Moreews, Eda Tahir Turanli, Ommar Omarjee, Yvan Jamilloux, Isabelle Melki, Christophe Malcus, Alexandre Belot, Françoise Bleicher, Mathieu Gerfaud-Valentin, Anne-Laure Mathieu, Cécile Frachette, CNRS, UMR5242, Inst Genom Fonctionnelle Lyon,Ecole Normale Super, Université de Lyon, Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des rhumatismes inflammatoires et maladies auto-immunes systémiques rares de l’enfant / National Referee Centre for Rheumatic and AutoImmune and Systemic Diseases in Children [Lyon] (RAISE), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hôpital de la Croix-Rousse [CHU - HCL], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Istanbul Technical University (ITÜ), National Institutes of Health [Bethesda] (NIH), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Médecine Interne [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of Manchester [Manchester], Institut de Génomique Fonctionnelle de Lyon (IGFL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Edinburgh, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), and HAL-SU, Gestionnaire
Subjects: Male, Proteomics, Inflammasomes, [SDV]Life Sciences [q-bio], Innate immunity and inflammation, Arthritis, Autophagy-Related Proteins, Apoptosis, Bioinformatics, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, Monocytes, 0302 clinical medicine, Interferon, Loss of Function Mutation, Lipid droplet, Immunology and Allergy, Macrophage, Medicine, Exome, Child, Medicine(all), [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, 0303 health sciences, TOR Serine-Threonine Kinases, Homozygote, Intracellular Signaling Peptides and Proteins, NF-kappa B, Inflammasome, Cell Differentiation, 3. Good health, Cell biology, Mitochondria, Pedigree, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Female, medicine.symptom, medicine.drug, Signal Transduction, Adolescent, Immunology, MEDLINE, Inflammation, Biology, Receptors for Activated C Kinase, Article, 03 medical and health sciences, Young Adult, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Immune system, Text mining, Rheumatology, Autophagy, Humans, Amino Acid Sequence, [SDV.IMM.II] Life Sciences [q-bio]/Immunology/Innate immunity, Human disease genetics, 030304 developmental biology, 030203 arthritis & rheumatology, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Bacteria, business.industry, Macrophage Colony-Stimulating Factor, Macrophages, Adenylate Kinase, Lipid Droplets, medicine.disease, Arthritis, Juvenile, Metabolism, Interferons, business, Lysosomes
Abstract: Juvenile arthritis represents the most common rheumatic manifestation in children. LACC1 deficiency has been identified as a monogenic cause of juvenile arthritis. In this issue, Omarjee et al. demonstrate a new role of LACC1 in autophagy and metabolism in macrophages., Juvenile idiopathic arthritis is the most common chronic rheumatic disease in children, and its etiology remains poorly understood. Here, we explored four families with early-onset arthritis carrying homozygous loss-of-expression mutations in LACC1. To understand the link between LACC1 and inflammation, we performed a functional study of LACC1 in human immune cells. We showed that LACC1 was primarily expressed in macrophages upon mTOR signaling. We found that LACC1 deficiency had no obvious impact on inflammasome activation, type I interferon response, or NF-κB regulation. Using bimolecular fluorescence complementation and biochemical assays, we showed that autophagy-inducing proteins, RACK1 and AMPK, interacted with LACC1. Autophagy blockade in macrophages was associated with LACC1 cleavage and degradation. Moreover, LACC1 deficiency reduced autophagy flux in primary macrophages. This was associated with a defect in the accumulation of lipid droplets and mitochondrial respiration, suggesting that LACC1-dependent autophagy fuels macrophage bioenergetics metabolism. Altogether, LACC1 deficiency defines a novel form of genetically inherited juvenile arthritis associated with impaired autophagy in macrophages.
Published: 2020

20. Clinical Phenotypes of Adult-Onset Still’s Disease: New Insights from Pathophysiology and Literature Findings

Author: Bruno Fautrel, Stéphane Mitrovic, Gestionnaire, Hal Sorbonne Université, Service de Rhumatologie [CHU Pitié Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Institut Mutualiste de Montsouris (IMM), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de rhumatologie [CHU Pitié Salpêtrière] (GRC-08 EEMOIS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: osteitis, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Arthritis, systemic-onset juvenile idiopathic arthritis, Review, immunological disease continuum, Disease, 03 medical and health sciences, Psoriatic arthritis, 0302 clinical medicine, Epidemiology, Maculopapular rash, medicine, adult-onset Still’s disease, innate immunity, 030304 developmental biology, psoriatic arthritis, 030203 arthritis & rheumatology, 0303 health sciences, business.industry, phenotypes, General Medicine, spondyloarthritis, autoinflammation, medicine.disease, Phenotype, Systemic-onset juvenile idiopathic arthritis, Pathophysiology, 3. Good health, [SDV] Life Sciences [q-bio], neutrophil urticarial dermatosis, Immunology, Medicine, medicine.symptom, business
Abstract: International audience; Adult-onset Still’s disease (AOSD) is a non-familial, polygenic systemic autoinflammatory disorder. It is traditionally characterized by four cardinal manifestations—spiking fever, an evanescent salmon-pink maculopapular rash, arthralgia or arthritis and a white-blood-cell count (WBC) ≥ 10,000/mm3, mainly neutrophilic polymorphonuclear cells (PMNs)—but many other manifestations and complications can be associated, making clinical expression very heterogeneous and diagnosis sometimes difficult. The AOSD course can be diverse and is currently impossible to predict. Several clinical phenotypes have been described, either on the basis of the evolution of symptoms over time (monocyclic, polycyclic and chronic evolution) or according to dominant clinical evolution (systemic and arthritis subtypes). However, these patterns are mainly based on case series and not on robust epidemiological studies. Furthermore, they have mainly been established a long time ago, before the era of the biological treatments. Thus, based on our personal experience and on recent advances in the understanding of disease pathogenesis, it appears interesting to reshuffle AOSD phenotypes, emphasizing the continuum between AOSD profiles and other systemic autoinflammatory disorders, eventually proposing a research agenda.
Published: 2021

21. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

Author: Noémie Lachaume, Fawaz Awad, Bruno Copin, Serge Amselem, Camille Louvrier, Emmanuelle Bourrat, Claire Jumeau, Philippe Duquesnoy, Sonia Karabina, Eman Assrawi, Bérengère Cador-Rousseau, Elma El Khouri, G. Grateau, William Piterboth, S. Georgin-Lavialle, Marie Legendre, Isabelle Melki, Irina Giurgea, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Service de pédiatrie générale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Service de Médecine interne et immunologie clinique [Rennes] = internal medicine and clinical immunology [Rennes], CHU Pontchaillou [Rennes], Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], and Couvet, Sandrine
Subjects: NLRP3-inflammasome activation, 0301 basic medicine, Male, somatic mosaic mutations, Inflammasomes, Protein Conformation, THP-1 Cells, Immunology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, medicine.disease_cause, Crystallography, X-Ray, Severity of Illness Index, Germline, Autoimmune Diseases, mutational hot spot, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, NLRP3, Familial Cold Autoinflammatory Syndrome, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, OMIM : Online Mendelian Inheritance in Man, Immunology and Allergy, Humans, NLRP3-associated autoinflammatory diseases, Germ-Line Mutation, 030203 arthritis & rheumatology, Genetics, Inflammation, Mutation, integumentary system, Wild type, Cryopyrin-associated periodic syndrome, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, HEK293 Cells, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Female
Abstract: International audience; Background: NLRP3-associated autoinflammatory diseases (NLRP3-AIDs) include conditions of various severities, due to germline or somatic mosaic NLRP3 mutations.Objective: To identify mosaic- versus germline-specific NLRP3 mutations' characteristics, we reinterpreted all the mutations reported in NLRP3-AIDs and performed an in-depth study of 3 novel patients.Methods: The pathogenicity of all reported mosaic/germline mutations was reassessed according to international recommendations and their location on the NLRP3 3-dimensional structure. Deep-targeted sequencing and NLRP3-inflammasome-activation assays were used to identify the disease-causing mutation in 3 patients.Results: We identified, in 3 patients, mosaic mutations affecting the same NLRP3 amino acid (Glu569). This residue belongs to 1 of the 2 mosaic mutational hot spots that face each other in the core of the NLRP3 ATPase domain. The review of the 90 NLRP3 mutations identified in 277 patients revealed that those hot spots account for 68.5% of patients (37 of 54) with mosaic mutations. Glu569 is affected in 22% of the patients (12 of 54) with mosaic mutations and in 0.4% of patients (1 of 223) with germline mutations. Only 8 of 90 mutations were found in mosaic and germinal states. All of the germline mutations were associated with a severe phenotype. These data suggest that mutations found only in mosaic state could be incompatible with life if present in germinal state. None of the 5 most frequent germline mutations was identified in mosaic state. Mutations found only in germinal state could, therefore, be asymptomatic in mosaic state.Conclusions: The phenotypic spectrum of NLRP3-AIDs appears to be related to the germinal/mosaic status and localization of the underlying mutations.
Published: 2019

22. Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra

Author: Sophie Georgin-Lavialle, Pauline M’Bappé, Serge Amselem, Katia Stankovic Stojanovic, Jérémie Sellam, Anne Miquel, Fawaz Awad, C Bachmeyer, Salam Abbara, Gilles Grateau, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], CHU Trousseau [APHP], Couvet, Sandrine, Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), Service de rhumatologie [Saint-Antoine], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Radiologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], and Service de génétique et embryologie médicales [CHU Trousseau]
Subjects: 0301 basic medicine, MESH: Antirheumatic Agents, Pediatrics, medicine.medical_specialty, MESH: Spondylarthritis, [SDV]Life Sciences [q-bio], Treatment outcome, MEDLINE, Familial Mediterranean fever, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, medicine, Pharmacology (medical), Young adult, MESH: Treatment Outcome, 030203 arthritis & rheumatology, Anakinra, MESH: Humans, business.industry, MESH: Familial Mediterranean Fever, medicine.disease, MESH: Male, [SDV] Life Sciences [q-bio], MESH: Interleukin 1 Receptor Antagonist Protein, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Young Adult, business, medicine.drug
Abstract: International audience
Published: 2016

23. Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients

Author: Sylvain Audia, Gilles Grateau, Fawaz Awad, Jean-Philippe Bastard, Serge Amselem, Véronique Delcey, Katia Stankovic Stojanovic, David Buob, Marie Legendre, Sophie Georgin-Lavialle, S. Abbara, Patricia Senet, Soraya Fellahi, Claude Bachmeyer, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Interne (SOC 1 et SOC 2) [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Département de Médecine interne [Lariboisière], Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), CHU Trousseau [APHP], SOBIBayer AG, Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), Service de dermatologie et allergologie [CHU Tenon], Service d'Anatomie et cytologie pathologiques [CHU Tenon], Service de biochimie et hormonologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de génétique et embryologie médicales [CHU Trousseau], and Couvet, Sandrine
Subjects: Adult, Male, medicine.medical_specialty, [SDV]Life Sciences [q-bio], MEFV, Familial Mediterranean fever, Disease, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Hidradenitis Suppurativa, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, AA amyloidosis, medicine, Autoinflammatory syndrome, Humans, Hidradenitis suppurativa, Interleukin-1 inhibitors, Aged, 030203 arthritis & rheumatology, MESH: Aged, Anakinra, MESH: Humans, MESH: Middle Aged, business.industry, Amyloidosis, MESH: Familial Mediterranean Fever, MESH: Adult, Middle Aged, medicine.disease, Autoinflammatory Syndrome, Dermatology, MESH: Male, [SDV] Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, business, Colchicine, MESH: Female, medicine.drug
Abstract: Objectives Familial mediterranean fever (FMF) is the most common monogenic autoinflammatory disease. Hidradenitis suppurativa (HS) is an inflammatory cutaneous disease. Those diseases can occur simultaneously among the same individual. Our objective was to describe the features of patients displaying both FMF and HS. Methods We screened the French adult FMF reference center for FMF patients with HS. Results Six patients out of 151 (4%) with a median age of 36 years old were concerned. Among them, FMF was symptomatic at a median age of 11.5 years old and colchicine was introduced at a median age of 20.5 years old. HS was diagnosed at a median age of 31.5 years old. An elderly patient displayed AA amyloidosis in the outcome of FMF, with a late diagnosis of HS, with response to anakinra. There was no temporal relation between FMF and HS attacks. Some patients had a persistent inflammatory syndrome under treatment. Conclusion FMF and HS are both inflammatory diseases involving young patients, with HS possibly being an autoinflammatory disease. Although their association seems to be fortuitous, both can induce an important inflammation state that could lead to AA amyloidosis and require a close monitoring of clinical signs and acute-phase reactants. Anakinra was successful in treating the only patient with both HS, FMF and amyloidosis.
Published: 2017

24. How should we approach classification of autoinflammatory diseases?

Author: Gilles Grateau, Katia Stankovic Stojanovic, Serge Amselem, Olivier Steichen, Véronique Hentgen, Isabelle Jéru, Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Couvet, Sandrine, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Departement Hospitalo- Universitaire - Inflammation, Immunopathologie, Biothérapie [Paris] (DHU - I2B), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-CHU Saint-Antoine [AP-HP]
Subjects: [SDV.IMM] Life Sciences [q-bio]/Immunology, Inflammasomes, [SDV]Life Sciences [q-bio], Interleukin-1beta, Family resemblance, [SDV.GEN] Life Sciences [q-bio]/Genetics, Disease, Autoimmune Diseases, Rheumatology, Rheumatic Diseases, Humans, Medicine, Autoinflammatory disease, Inflammation, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Hereditary Autoinflammatory Diseases, Inflammasome, Miscellaneous rheumatic diseases, Immunity, Innate, [SDV] Life Sciences [q-bio], Immunology, [SDV.IMM]Life Sciences [q-bio]/Immunology, Immunological diseases, business, Neuroscience, Signal Transduction, medicine.drug
Abstract: International audience; The notion of 'autoinflammatory' disease was introduced at the end of the 1990s, and, since then, this concept has rapidly evolved. As a result, multiple definitions of autoinflammatory disease, and classifications of conditions encompassed by these definitions, have been proposed; this succession highlights advances that have been made in understanding of the innate immune system, and especially the roles of IL-1β and the inflammasome in autoinflammtory conditions. However, the definitions and classifications that have been suggested to date face a number of structure and content issues. We therefore propose another, more clinically-oriented, definition: autoinflammatory diseases are diseases with clinical signs of inflammation, associated with elevated levels of acute-phase reactants, which are attributable to dysfunction of the innate immune system, genetically-determined or triggered by an endogenous factor. From this foundation, we propose a clinically-based classification of autoinflammatory diseases, and go on to discuss how immunological diseases as a whole, including autoimmune diseases, can be appropriately located within a continuum only if the classification process is multidimensional. For this purpose, we appeal to the philosophical concepts of family resemblance and signature.
Published: 2013

25. The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach

Author: Serge Amselem, Katia Stankovic Stojanovic, Philippe Duquesnoy, Sonia Karabina, Emmanuel Grimprel, Emmanuelle Cochet, Véronique Hentgen, Gilles Grateau, Gaëlle Le Borgne, Isabelle Jéru, Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Sorbonne Université (SU), Service de génétique et embryologie médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], and Couvet, Sandrine
Subjects: Heredity, Non-Clinical Medicine, [SDV]Life Sciences [q-bio], lcsh:Medicine, Familial Mediterranean fever, [SDV.GEN] Life Sciences [q-bio]/Genetics, Loss of heterozygosity, Gene Frequency, Autosomal Recessive, Genotype, Ethnicity, Prevalence, lcsh:Science, Genetics, education.field_of_study, Multidisciplinary, Statistics, MEFV, Innate Immunity, Familial Mediterranean Fever, Pedigree, [SDV] Life Sciences [q-bio], Medicine, [SDV.IMM]Life Sciences [q-bio]/Immunology, Research Article, Risk, Heterozygote, [SDV.IMM] Life Sciences [q-bio]/Immunology, Clinical Research Design, Genetic counseling, Genotypes, Immunology, Population, Gastroenterology and Hepatology, Biostatistics, Biology, Molecular Genetics, Rheumatology, medicine, Humans, Genetic Predisposition to Disease, Statistical Methods, Allele, education, Allele frequency, Alleles, Retrospective Studies, Inflammation, Clinical Genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, Health Care Policy, Siblings, lcsh:R, Immunity, Health Risk Analysis, Human Genetics, Pyrin, medicine.disease, Cytoskeletal Proteins, Mutation, Genetics of Disease, Clinical Immunology, lcsh:Q, Health Statistics, Population Genetics, Mathematics
Abstract: International audience; Background: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to the proposal that heterozygosity could be causal. However, heterozygosity might be coincidental in many patients due to the very high rate of mutations in Mediterranean populations.Objective: To better delineate the pathogenicity of heterozygosity in order to improve genetic counselling and disease management.Methods: Complementary statistical approaches were used: estimation of FMF prevalence at population levels, genotype comparison in siblings from 63 familial forms, and genotype study in 557 patients from four Mediterranean populations.Results: At the population level, we did not observe any contribution of heterozygosity to disease prevalence. In affected siblings of patients carrying two MEFV mutations, 92% carry two mutated alleles, whereas 4% are heterozygous with typical FMF diagnosis. We demonstrated statistically that patients are more likely to be heterozygous than healthy individuals, as shown by the higher ratio heterozygous carriers/non carriers in patients (p
Published: 2013

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25 results on '"Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA)"'

1. Amyloidosis from the patient perspective: the French daily impact of amyloidosis study

2. HCV-related lymphoproliferative disorders in the direct-acting antiviral era: From mixed cryoglobulinaemia to B-cell lymphoma

3. Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis

4. Le syndrome de fièvre prolongée associée aux mutations du gène du récepteur au TNF de type 1 : un diagnostic différentiel de la fièvre méditerranéenne familiale à ne pas méconnaître chez les patients d’origine méditerranéenne

5. Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study

6. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review

7. Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study

8. The French paediatric cohort of Castleman disease: a retrospective report of 23 patients

9. Autoinflammation liée à l’haploinsuffisance A20 : identification et caractérisation fonctionnelle de nouveaux variants A20

10. USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still’s Disease in Elderly Patients

11. Title: AA amyloidosis complicating monoclonal gammopathies, an unusual feature validating the concept of 'monoclonal gammopathy of inflammatory significance'? Authors: Alexandre Terré¹ , ¹³ https://orcid.org/0000-0002-8295-9068, Magali Colombat²

12. Limites nosologiques entre fièvre méditerranéenne familiale et spondylarthrite juvénile : analyse de trois cohortes rétrospectives françaises

13. Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

14. Autoinflammatory diseases: State of the art

15. SARS-CoV-2 outbreak in immune-mediated inflammatory diseases: the Euro-COVIMID multicentre cross-sectional study

16. Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review

17. Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review

18. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review

19. LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

20. Clinical Phenotypes of Adult-Onset Still’s Disease: New Insights from Pathophysiology and Literature Findings

21. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

22. Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra

23. Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients

24. How should we approach classification of autoinflammatory diseases?

25. The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach

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