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1. Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature

Author

María Soledad, Caldirola, Andrea Gómez, Raccio, Daniela Di, Giovanni, María Isabel, Gaillard, and María Victoria, Preciado

Subjects
Mutation, Immunology, Cytokines, Humans, Immunology and Allergy, Cell Biology, Child, Lymphohistiocytosis, Hemophagocytic, T-Lymphocytes, Cytotoxic
Abstract

Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, allergy and malignancies. In this regard, mutations that affect proteins involved in trafficking, priming, docking, or membrane fusion will impair the exocytosis of lytic granules of effector NK and cytotoxic T lymphocytes. This may predispose patients to hemophagocytic lymphohistiocytosis, a life-threatening immune disorder characterized by systemic lymphocyte and macrophage activation, and increased levels of cytokines, which lead to an uncontrolled hyperinflammation state and progressive multiorgan damage. In this review, we will describe a clinical case and recent advances in inborn errors of immunity predisposing to hemophagocytic lymphohistiocytosis. Summary sentence: Review of recent advances in inborn errors of immunity predisposing to hemophagocytic lymphohistiocytosis.

Published
2022
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2. CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Author

Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines-Boone, Edna Venegas-Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de Barros Dorna, Nelson Augusto Rosário-Filho, Herberto Jose Chong-Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto-Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral-Marques, and Antonio Condino-Neto

Subjects
Cohort Studies, Latin America, MUTAÇÃO GENÉTICA, CD40 Ligand, Immunology, Immunologic Deficiency Syndromes, Humans, Immunology and Allergy, Retrospective Studies
Abstract

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Published
2022
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3. Correction to: CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Author

Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines‑Boone, Edna Venegas‑Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de barros Dorna, Nelson Augusto Rosario‑Filho, Herberto Jose Chong‑Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto‑Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral‑Marques, and Antonio Condino‑Neto

Subjects
Immunology, Immunology and Allergy, ESTUDOS DE COORTES
Published
2022
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4. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Author

Hidenori Ohnishi, Tomohiro Morio, Capucine Picard, Hirokazu Kanegane, Elizabeth Secord, Yoji Sasahara, Arjan C. Lankester, Saetbyul Lee, Ashish Jain, Kay Tanita, Ryuta Nishikomori, Jean-Laurent Casanova, Liliana Bezrodnik, Alessia Scarselli, Erwin W. Gelfand, Daniel Petersheim, Michael H. Albert, Daniela Di Giovanni, Morna J. Dorsey, Troy R. Torgerson, Michel J. Massaad, Raif S. Geha, Kunihiko Moriya, and Caterina Cancrini

Subjects
0301 basic medicine, NF-κB inhibitor α, Allergy, canonical nuclear factor kappa B pathway, Mutant, Ectodermal dysplasia with immune deficiency, IκB kinase, Proto-Oncogene Mas, NF-kappa B inhibitor alpha, chemistry.chemical_compound, NF-KappaB Inhibitor alpha, Ectodermal Dysplasia, Immunology and Allergy, 2.1 Biological and endogenous factors, Aetiology, RELB, Genetic Diseases, X-Linked, Intercellular Adhesion Molecule-1, Settore MED/02, Genetic Diseases, hematopoietic stem cell transplantation, Signal Transduction, canonical nuclear factor κB pathway, Genotype, Primary Immunodeficiency Diseases, Immunology, Biology, Article, 03 medical and health sciences, Downregulation and upregulation, NF-kappa B p52 Subunit, Genetics, Humans, Point Mutation, noncanonical nuclear factor κB pathway, Chemokine CCL20, Interleukin-6, Point mutation, Wild type, Immunologic Deficiency Syndromes, NF-κB, X-Linked, IκBα, lymphorganogenesis, 030104 developmental biology, HEK293 Cells, chemistry, Cancer research, Carrier Proteins, noncanonical nuclear factor kappa B pathway
Abstract

Background Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to serine 32 and serine 36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation and thus activation of the canonical nuclear factor κ light chain enhancer of activated B cells (NF-κB) pathway. The outcome of hematopoietic stem cell transplantation is poor in patients with AD EDA-ID despite achievement of chimerism. Mice heterozygous for the serine 32I mutation in IκBα have impaired noncanonical NF-κB activity and defective lymphorganogenesis. Objective We sought to establish genotype-phenotype correlation in patients with AD EDA-ID. Methods A disease severity scoring system was devised. Stability of IκBα mutants was examined in transfected cells. Immunologic, biochemical, and gene expression analyses were performed to evaluate canonical and noncanonical NF-κB signaling in skin-derived fibroblasts. Results Disease severity was greater in patients with IκBα point mutations than in those with truncation mutations. IκBα point mutants were expressed at significantly higher levels in transfectants compared with truncation mutants. Canonical NF-κB–dependent IL-6 secretion and upregulation of the NF-κB subunit 2/p100 and RELB proto-oncogene, NF-κB subunit (RelB) components of the noncanonical NF-κB pathway were diminished significantly more in patients with point mutations compared with those with truncations. Noncanonical NF-κB–driven generation of the transcriptionally active p100 cleavage product p52 and upregulation of CCL20 , intercellular adhesion molecule 1 (ICAM1) , and vascular cell adhesion molecule 1 (VCAM1) , which are important for lymphorganogenesis, were diminished significantly more in LPS plus α-lymphotoxin β receptor–stimulated fibroblasts from patients with point mutations compared with those with truncations. Conclusions IκBα point mutants accumulate at higher levels compared with truncation mutants and are associated with more severe disease and greater impairment of canonical and noncanonical NF-κB activity in patients with AD EDA-ID.

Published
2018
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5. Comparative Study of Subcutaneous Versus Intravenous IgG Replacement Therapy in Pediatric Patients with Primary Immunodeficiency Diseases: A Multicenter Study in Argentina

Author

Carlos Riganti, Ileana Moreira, Liliana Bezrodnik, Gabriela Belardinelli, Gisela Seminario, Daniela Di Giovanni, Damacia Díaz Ballve, Andrea C. Gómez Raccio, Héctor Díaz, Claudio Cantisano, and Lorena Regairaz

Subjects
Male, Immunoglobulin therapy, medicine.medical_specialty, Pediatrics, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, Injections, Subcutaneous, Immunology, Population, Inmunología, Argentina, Ciencias de la Salud, Subcutaneous immunoglobulin, Infections, Medical microbiology, Humans, Immunology and Allergy, Medicine, In patient, Prospective Studies, Child, education, Children, education.field_of_study, Primary immunodeficiency, business.industry, Subcutaneous, Immunologic Deficiency Syndromes, Immunoglobulins, Intravenous, medicine.disease, Enfermedades Infecciosas, Medicina Básica, Multicenter study, Tolerability, Beriglobina P, Immunoglobulin G, Intravenous IG, Feasibility Studies, Female, Immunotherapy, Intravenous, business
Abstract

Purpose Several studies have shown that subcutaneous immunoglobulin (SCIG) infusions demonstrate similar efficacy to intravenous Ig (IVIG) in preventing infections in patients with primary immunodeficiency diseases (PID), and are safe and well tolerated in this population. This open, prospective/retrospective, multicenter study was designed to compare the effectiveness, safety and tolerability of a 16 % liquid human IgG preparation (Beriglobina P), administered SC, with previous IVIG treatment in PID pediatric patients in Argentina. Methods Fifteen subjects were enrolled in the study, and a total of 13 subjects (aged 6–18 years) completed the 36-week SCIG treatment period. All children had previously received IVIG treatment. The dose of SCIG equaled the previous IVIG dose and subjects received an average weekly dose of 139 mg/kg (range 105–181) during the SCIG period. Results Significantly higher serum IgG trough levels were recorded on SCIG treatment at 16, 24, and 36 weeks, when compared with previous IgG trough levels on steady-state IVIG treatment. The annualized infection rate was 1.4 infections/subject/year during the IVIG administration period compared with 0.4 infections/subject/year during the SCIG period. All subjects who completed the study chose to continue administering SCIG at home after the study had ended. Conclusions These data confirm that self-administered SCIG therapy is a well-tolerated and effective alternative to IVIG therapy for children with PID. Fil: Bezrodnik, Liliana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Gómez Raccio, Andrea. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina Fil: Belardinelli, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina Fil: Regairaz, Lorena. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor Maria Ludovica" de la Plata; Argentina Fil: Díaz Ballve, Damacia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina Fil: Seminario, Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina Fil: Moreira, Ileana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina Fil: Riganti, Carlos. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Pedro Elizalde" (ex Casa Cuna); Argentina Fil: Cantisano, Claudio. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Pedro Elizalde" (ex Casa Cuna); Argentina Fil: Díaz, Héctor. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Pedro Elizalde" (ex Casa Cuna); Argentina Fil: Di Giovanni, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina

Published
2013
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6. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

Author

Capucine Picard, Anastasia Bondarenko, Marjorie Hubeau, Lorena Regairaz, Caroline Deswarte, Imen Ben-Mustapha, Antoine Guérin, Joseph Hertecant, Guillaume Vogt, Rose-Marie Herbigneaux, Fatima Ailal, Davood Mansouri, Guzide Aksu, Antonio Condino-Neto, Laurent Abel, Carolina Prando, Ambre Czarna, Lizbeth Blancas Galicia, Saul Oswaldo Lugo-Reyes, Isil Barlan, Mussaret B. Zaidi, Liliana Bezrodnik, Daniela Di Giovanni, Laura Perez, Laila Ait Baba, Sigifredo Pedraza-Sánchez, Miguel Galicchio, Gehad ElGhazali, Aminata Diabate, Sara Espinosa, Matías Oleastro, Francesca Conti, Necil Kutukculer, Edgar Oliveira, Héctor Eduardo Guidos Morales, Edith Gonzalez Serrano, Fatma Nur Öz, Ahmed Aziz Bousfiha, Jalel Chemli, Özden Anal, Peter Ciznar, Nizar Mahlaoui, Francisco J. Espinosa-Rosales, Silvia Danielian, Gloria G. Guerrero, Saleh Al-Muhsen, Marco Antonio Yamazaki Nakashimada, Nadia Kechout, Ridha Barbouche, Maria Claudia Ortega, Susana Soto Lavin, Liudmyla Chernyshova, Ghassan Dbaibo, Melike Emiroglu, Stéphane Blanche, Jacinta Bustamante, Mélanie Migaud, Jean-Laurent Casanova, Maylis de Suremain, Barik Konte, Neslihan Edeer Karaca, Jianxin He, Stéphanie Ndaga, Nestor Proenza Pérez, Stéphanie Boisson-Dupuis, Eman Al-Idrissi, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Public Health and Cellular Biology [Rome], Università degli Studi di Roma Tor Vergata [Roma], Génétique Humaine des Maladies Infectieuses (Inserm U980), Immunodeficiencies Research Unit [Mexico city], National Institute of Pediatrics, Mexico, Beijing Childrens Hospital, Department of Pediatrics [Izmir], Ege University, Institute of Biomedical Sciences - Department of Immunology [Sao Paulo], University of São Paulo (USP), Laboratory of Biology and Health UARC34–Metabolic and Immunologic Pathology Research Team, Faculté des Sciences Ben M'sik [Casablanca], Université Hassan II [Casablanca] (UH2MC)-Université Hassan II [Casablanca] (UH2MC), Bioinformatics Laboratory [Curitiba], Pelé Pequeno Principe Research Institute, Curitiba, Department of Pediatric Infectious Diseases [Konya], Necmettin Erbakan University, Meram Medical Faculty, Pediatric Infectious Diseases Department [Ankara], Dr Sami Ulus Matern & Childrens Res & Training Ho, Department of Immunology [Mexico City], Natl Inst Pediat, Immunodeficiencies Res Unit, Mexico City, DF, Mexico, Marmara University [Kadıköy - İstanbul], Childrens Hosp Super Sor Maria Ludovica, Allergy and Immunology Unit [San Salvador], Natl Childrens Hosp Benjamin Bloom San Salvador, Immunology Unit [Buenos Aires], Childrens Hosp Ricardo Gutierrez Buenos Aires, Department of Pediatrics [Beirut], American University of Beirut [Beyrouth] (AUB), Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Hospital King Hassan II University-Aïn Chok, Childrens Hosp Victor J Vilela Rosario, Department of Immunology [Buenos Aires], 'Juan Pedro Garrahan' National Hospital of Pediatrics, Buenos Aires, Department of Pediatrics [Sousse], Sahloul Hospital, Childrens Hosp San Jose Colombia, Concepcion Regional Hospital [Concepción], Department of Pediatrics [Abu Dhabi], Tawam Hospital, Al Ain, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Institut Pasteur d'Algérie, Réseau International des Instituts Pasteur (RIIP), Department of Pediatrics [Riyadh], King Fahad Medical City, Department of Pediatrics Infectious Diseases and Clinical Immunology [Kiev], Department of Pediatrics, Comenius University Medical School [Bratislava], University Children's Hospital, Bratislava, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unit of Biochemistry [Tlalpan], Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán - National Institute of Medical Science and Nutrition Salvador Zubiran [Mexico], Microbiology Research Laboratory, Hospital General O'Horan and Infectious Diseases Research Unit [Merida], Hosp Reg Alta Especialidad Peninsula Yucatan, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Institut Pasteur de Tunis, Shahid Beheshti University of Medical Sciences [Tehran] (SBUMS), Shahid Beheshti University, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], French Reference Center for Primary Immune Deficiencies (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University [Riyadh] (KSU), F.C. was supported by the Department of Public Health and Cellular Biology, University of Rome Tor Vergata. A.G. was supported by the French National Research Agency (ANR). The Laboratory of Human Genetics of Infectious Diseases is supported by institutional grants from INSERM, University Paris Descartes, the Rockefeller University, and the St Giles Foundation and grants from the French National Research Agency (ANR) under the 'Investments for the Future' program (grant no. ANR-10-IAHU-01) and grant IFNGPHOX (no. ANR13-ISV3-0001-01). E.B.d.O. and A.C.-N. are supported by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP grants 2012/11757-2, 2010/51814-0, and 2012/51094-2) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPQ grant 303809/2010-8). S.P.-S. is supported by Consejo Nacional de Ciencia y Tecnología (CONACYT, grant 182817)., Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Rome Tor Vergata, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Dokuz Eylul University, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán - National Institute of Medical Science and Nutrition Salvador Zubiran, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Shahid Beheshti University of Medical Sciences, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, rockefeller university, Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), University of São Paulo ( USP ), Faculty of Science of Ben M'sik, King Hassan II University–Mohammedia, Casablanca, American University of Beirut [Beyrouth], Faculty of Medicine, Dokuz Eylül University, Izmir, Institut Pasteur d'Algérie-Réseau International des Instituts Pasteur ( RIIP ), Centre Hospitalier Universitaire de La Réunion ( CHU La Réunion ), Natl Inst Med Sci & Nutr Salvador Zubiran, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Institut Pasteur de Tunis-Réseau International des Instituts Pasteur ( RIIP ), and King Saud University [Riyadh] ( KSU )

Subjects
0301 basic medicine, Male, MESH : Retrospective Studies, [SDV]Life Sciences [q-bio], Disease, MESH : Child, Preschool, chronic granulomatous disease, Granulomatous Disease, Chronic, 0302 clinical medicine, Chronic granulomatous disease, MESH : Child, MESH: Granulomatous Disease, Chronic, MESH: Child, Immunology and Allergy, Disseminated disease, MESH : Female, BCG, MESH: Tuberculosis, MESH : BCG Vaccine, Child, biology, MESH: Patient Outcome Assessment, MESH : Infant, Bacterial Infections, MESH : Tuberculosis, MESH: Infant, MESH : Patient Outcome Assessment, 3. Good health, Vaccination, MESH : Bacterial Infections, MESH: BCG Vaccine, tuberculosis, Mycobacterium ulcerans, Child, Preschool, BCG Vaccine, Female, Tuberculosis, MESH: Bacterial Infections, MESH : Male, Immunology, primary immunodeficiency, 03 medical and health sciences, MESH: Mycoses, medicine, Humans, MESH: Mycobacterium Infections, Retrospective Studies, MESH : Mycoses, Mycobacterium Infections, MESH: Humans, [ SDV ] Life Sciences [q-bio], business.industry, MESH : Humans, MESH: Child, Preschool, Infant, Mycobacteria, MESH: Retrospective Studies, medicine.disease, biology.organism_classification, MESH: Male, Patient Outcome Assessment, 030104 developmental biology, Mycoses, MESH : Mycobacterium Infections, Primary immunodeficiency, MESH : Granulomatous Disease, Chronic, business, BCG vaccine, MESH: Female, 030215 immunology
Abstract

International audience; Background : Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex. From the first year of life onward, most affected patients display multiple, severe, and recurrent infections caused by bacteria and fungi. Mycobacterial infections have also been reported in some patients.Objective : Our objective was to assess the effect of mycobacterial disease in patients with CGD.Methods : We analyzed retrospectively the clinical features of mycobacterial disease in 71 patients with CGD. Tuberculosis and BCG disease were diagnosed on the basis of microbiological, pathological, and/or clinical criteria.Results : Thirty-one (44%) patients had tuberculosis, and 53 (75%) presented with adverse effects of BCG vaccination; 13 (18%) had both tuberculosis and BCG infections. None of these patients displayed clinical disease caused by environmental mycobacteria, Mycobacterium leprae, or Mycobacterium ulcerans. Most patients (76%) also had other pyogenic and fungal infections, but 24% presented solely with mycobacterial disease. Most patients presented a single localized episode of mycobacterial disease (37%), but recurrence (18%), disseminated disease (27%), and even death (18%) were also observed. One common feature in these patients was an early age at presentation for BCG disease. Mycobacterial disease was the first clinical manifestation of CGD in 60% of these patients.Conclusion : Mycobacterial disease is relatively common in patients with CGD living in countries in which tuberculosis is endemic, BCG vaccine is mandatory, or both. Adverse reactions to BCG and severe forms of tuberculosis should lead to a suspicion of CGD. BCG vaccine is contraindicated in patients with CGD.

Published
2016
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7. Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features

Author

Daniela Di Giovanni, Troy R. Torgerson, María Soledad Caldirola, Liliana Bezrodnik, María Isabel Gaillard, and María Esnaola Azcoiti

Subjects
Adult, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, animal structures, Long term follow up, T-Lymphocytes, Immunology, Inmunología, Argentina, LYMPHOCYTIC INTERSTITIAL PNEUMONITIS, STAT5B, Immunoglobulins, Biology, stat, Young Adult, REGULATORY T CELLS, Mediator, Medical microbiology, PRIMARY IMMUNODEFICIENCY, medicine, STAT5 Transcription Factor, Immunology and Allergy, Humans, Lymphocyte Count, Autoantibodies, B-Lymphocytes, Immunologic Deficiency Syndromes, food and beverages, medicine.disease, Medicina Básica, STAT5B Deficiency, DYSREGULATORY SYNDROME, Mutation, STAT protein, Primary immunodeficiency, GROWTH HORMONE, Female, hormones, hormone substitutes, and hormone antagonists
Abstract

The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in particular, plays an important role in T cells, where it is a key mediator of interleukin-2 (IL-2) induced responses. STAT5B deficiency causes a rare autosomal recessive disorder reported in only a handful of individuals. There are currently ten published cases of STAT5B deficiency, four of which are Argentinians. Fil: Bezrodnik, Liliana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Di Giovanni, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina Fil: Caldirola, María Soledad. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina Fil: Esnaola Azcoiti, María. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina Fil: Torgerson, Troy. University of Washington; Estados Unidos Fil: Gaillard, María Isabel. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina

Published
2014

8. First report of the hyper-IgM syndrome registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes

Author

Gisele Kuntze, María del Carmen Zarate-Hernández, Juan Carlos Aldave, Nelson Augusto Rosario-Filho, Alejandra King, T. Staines-Boone, Milena Baptistella Grota, Leopoldo Santos-Argumedo, Elisa de Carvalho, Fabiola Scancetti Tavares, Angela Falcai, Taj Ali Khan, Oscar Porras, Eli Mansour, Paulo Vitor Soeiro Pereira, Cláudia França Cavalcante Valente, Janaíra Fernandes Ferreira, Pérsio Roxo-Junior, Hans D. Ochs, Ricardo U. Sorensen, Anne Durandy, Andrea C. Gómez Raccio, Ileana Moreira, Antonio Condino-Neto, Liliana Bezrodnik, Lena F. Schimke, Francisco J. Espinosa-Rosales, Alexander Vargas-Hernández, Wilmer O. Córdova Calderón, Leiva de Souza Moura, Miguel Galicchio, Ekaterine S. Goudouris, Gisela Seminario, Maria Marluce dos Santos Vilela, Daniela Di Giovanni, Regina Sumiko Watanabe Di Gesu, Eduardo Talesnik, Evelyn Helena Ascendino, Troy R. Torgerson, Otavio Cabral-Marques, S. Lima, Beatriz Tavares Costa Carvalho, Anete Sevciovic Grumach, Fernanda Pinto-Mariz, Laura Berrón-Ruiz, Cristina Worm Weber, and Stefanie Klaver

Subjects
Male, medicine.medical_specialty, Hyper IgM syndrome, Mycoplasma pneumoniae, CIENCIAS MÉDICAS Y DE LA SALUD, CD40L-deficient, Immunology, CD40 Ligand, Comorbidity, Medicina Clínica, MUTAÇÃO, medicine.disease_cause, Hyper-IgM Immunodeficiency Syndrome, Infections, Sepsis, Medical microbiology, AID deficiency, Cytidine Deaminase, HIGM syndrome, medicine, Immunology and Allergy, Humans, Opportunistic infections, Registries, Lung, Retrospective Studies, Respiratory tract infections, business.industry, Infant, Newborn, Infant, CD40 Ligand Deficiency, Hispanic or Latino, medicine.disease, Diarrhea, Pneumonia, Treatment Outcome, Child, Preschool, Female, Medicina Critica y de Emergencia, medicine.symptom, business, Tomography, X-Ray Computed
Abstract

Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens orAspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas. Fil: Cabral Marques, Otavio. Universidade de Sao Paulo; Brasil Fil: Klaver, Stefanie. Universidade de Sao Paulo; Brasil Fil: Schimke, Lena F. Universidade de Sao Paulo; Brasil Fil: Ascendino, Évelyn H. Universidade de Sao Paulo; Brasil Fil: Khan, Taj Ali. Universidade de Sao Paulo; Brasil Fil: Pereira, Paulo Vítor Soeiro. Universidade de Sao Paulo; Brasil Fil: Falcai, Angela. Universidade de Sao Paulo; Brasil Fil: Vargas Hernández, Alexander. Instituto Politécnico de México; México Fil: Santos-Argumedo, Leopoldo. Instituto Politécnico de México; México Fil: Bezrodnik, Liliana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Moreira, Ileana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Seminario, Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Di Giovanni, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Raccio, Andrea Gómez. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Porras, Oscar. Hospital Nacional de Niños, “Dr. Carlos Sáenz Herrera”; Costa Rica Fil: Weber, Cristina Worm. Pediatric Allergy & Immunology Clinic; Brasil Fil: Ferreira, Janaíra Fernandes. Albert Sabin Hospital; Brasil Fil: Tavares, Fabiola Scancetti. Hospital de Base do Distrito Federal; Brasil Fil: de Carvalho, Elisa. Hospital de Base do Distrito Federal; Brasil Fil: Valente, Claudia França Cavalcante. Hospital de Base do Distrito Federal; Brasil Fil: Kuntze, Gisele. Integrated Center of Pediatric Specialties; Brasil Fil: Galicchio, Miguel. Hospital de Niños ; Argentina Fil: King, Alejandra. Hospital ; Chile Fil: Rosário Filho, Nelson Augusto. Universidade Federal do Paraná; Brasil Fil: Grota, Milena Baptistella. Universidade Estadual de Campinas; Brasil Fil: dos Santos Vilela, Maria Marluce. Universidade Estadual de Campinas; Brasil Fil: Di Gesu, Regina Sumiko Watanabe. Conceição Children’s Hospital; Brasil Fil: Lima, Simone. Childrens Hospital ; Brasil Fil: de Souza Moura, Leiva. Childrens Hospital ; Brasil Fil: Talesnik, Eduardo. Pontificia Universidad Católica de Chile; Chile Fil: Mansour, Eli. Universidade Estadual de Campinas; Brasil Fil: Roxo Junior, Pérsio. Universidade de Sao Paulo; Brasil Fil: Aldave, Juan Carlos. Hospital Nacional ; Perú Fil: Goudouris, Ekaterine. Universidade Federal do Rio de Janeiro; Brasil Fil: Pinto Mariz, Fernanda. Universidade Federal do Rio de Janeiro; Brasil Fil: Berrón Ruiz, Laura. Instituto Nacional de Pediatría; México Fil: Staines Boone, Tamara. Unidad Médica de Alta Especialidad #25; México Fil: Calderón, Wilmer O. Córdova. Clínica Montefiori; Perú Fil: del Carmen Zarate Hernández, María. Universidad Autónoma de Nuevo León; México Fil: Grumach, Anete S.. Universidade Federal do ABC; Brasil Fil: Sorensen, Ricardo. Children’s Hospital of New Orleans; Estados Unidos Fil: Durandy, Anne. Inserm; Francia Fil: Torgerson, Troy R.. University of Washington; Estados Unidos Fil: Carvalho, Beatriz Tavares Costa. Universidade de Sao Paulo; Brasil Fil: Espinosa Rosales, Francisco. Instituto Nacional de Pediatría; México Fil: Ochs, Hans D.. University of Washington; Estados Unidos Fil: Condino Neto, Antonio. Universidade de Sao Paulo; Brasil

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2014

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