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Your search keyword '"Papadopoulou-Alataki, E."' showing total 9 results
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9 results on '"Papadopoulou-Alataki, E."'

1. Long-term safety of icatibant treatment of patients with angioedema in real-world clinical practice

Author

Zanichelli, A., Maurer, M., Aberer, W., Caballero, T., Longhurst, H. J., Bouillet, L., Fabien, V., Andresen, I., Grumach, A., Bygum, A., Blanchard Delaunay, C., Boccon-Gibod, I., Coppere, B., Du Thanh, A., Dzviga, C., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Aygören-Pürsün, E., Bas, M., Bauer, A., Bork, K., Greve, J., Magerl, M., Martinez Saguer, I., Strassen, U., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Marone, G., Montinaro, V., Triggiani, M., Baeza, L., Cabañas, R., Gala Ortiz, G., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Björkander, J., Bethune, C., Garcez, T., Zanichelli, A., Maurer, M., Aberer, W., Caballero, T., Longhurst, H. J., Bouillet, L., Fabien, V., Andresen, I., Grumach, A., Bygum, A., Blanchard Delaunay, C., Boccon-Gibod, I., Coppere, B., Du Thanh, A., Dzviga, C., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Aygören-Pürsün, E., Bas, M., Bauer, A., Bork, K., Greve, J., Magerl, M., Martinez Saguer, I., Strassen, U., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Marone, G., Montinaro, V., Triggiani, M., Baeza, L., Cabañas, R., Gala Ortiz, G., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Björkander, J., Bethune, C., and Garcez, T.

Subjects
safety, 0301 basic medicine, real-world, medicine.medical_specialty, Immunology, Brief Communication, Off-label use, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Icatibant, Internal medicine, angioedema, icatibant, Immunology and Allergy, Medicine, Reflux esophagitis, Adverse effect, Pregnancy, Angioedema, business.industry, real‐world, medicine.disease, 030104 developmental biology, 030228 respiratory system, chemistry, Anesthesia, Observational study, Long term safety, medicine.symptom, business
Abstract

The Icatibant Outcome Survey (IOS) is an observational study monitoring safety and effectiveness of icatibant in the real‐world setting. We analyzed safety data from 3025 icatibant‐treated attacks in 557 patients (enrolled between July 2009 and February 2015). Icatibant was generally well tolerated. Excluding off‐label use and pregnancy, 438 patients (78.6%) did not report adverse events (AEs). The remaining 119 (21.4%) patients reported 341 AEs, primarily gastrointestinal disorders (19.6%). Of these, 43 AEs in 17 patients (3.1%) were related to icatibant. Serious AEs (SAEs) occurred infrequently. A total of 143 SAEs occurred in 59 (10.6%) patients; only three events (drug inefficacy, gastritis, and reflux esophagitis) in two patients were considered related to icatibant. Notably, no SAEs related to icatibant occurred in patients with cardiovascular disease, nor in those using icatibant at a frequency above label guidelines. Additionally, no major differences were noted in AEs occurring in on‐label vs off‐label icatibant users.

Published
2017
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2. Breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis are responsive to icatibant:findings from the Icatibant Outcome Survey

Author

Aberer, Werner, Maurer, Marcus, Bouillet, Laurence, Zanichelli, Andrea, Caballero, Teresa, Longhurst, Hilary J., Perrin, Amandine, Andresen, Irmgard, Wiednig, M., Grumach, A., Bygum, A., Blanchard Delauny, C., Boccon-Gibod, I., Coppere, B., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P. Y., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Arnolds, J., Aygören-Pürsün, E., Bas, M., Bauer, M., Bork, K., Magerl, M., Martinez-Saguer, I., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Montinaro, V., Marone, G., Baeza, M. L., Cabañas, R., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Bjoerkander, J., Bethune, C., Garcez Pereira, T., Helbert, M., Aberer, Werner, Maurer, Marcu, Bouillet, Laurence, Zanichelli, Andrea, Caballero, Teresa, Longhurst, Hilary J., Perrin, Amandine, Andresen, Irmgard, Wiednig, M., Grumach, A., Bygum, A., Blanchard Delauny, C., Boccon-Gibod, I., Coppere, B., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P. Y., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Arnolds, J., Aygören-Pürsün, E., Bas, M., Bauer, M., Bork, K., Magerl, M., Martinez-Saguer, I., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Montinaro, V., Marone, G., Baeza, M. L., Cabañas, R., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Bjoerkander, J., Bethune, C., Garcez Pereira, T., and Helbert, M.

Subjects
lcsh:Immunologic diseases. Allergy, Pulmonary and Respiratory Medicine, Breakthrough attack, Immunology, Attack rate, Time to treatment, Long term prophylaxis, Bradykinin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Icatibant, Immunology and Allergy, Medicine, In patient, 030212 general & internal medicine, Prophylaxi, Breakthrough attacks, Hereditary angioedema, business.industry, Prophylaxis, Research, musculoskeletal, neural, and ocular physiology, General Medicine, medicine.disease, Rescue medication, Treatment characteristics, 030228 respiratory system, chemistry, nervous system, Anesthesia, lcsh:RC581-607, business
Abstract

BACKGROUND: Patients with hereditary angioedema (HAE) due to C1-inhibitor deficiency (C1-INH-HAE) experience recurrent attacks of cutaneous or submucosal edema that may be frequent and severe; prophylactic treatments can be prescribed to prevent attacks. However, despite the use of long-term prophylaxis (LTP), breakthrough attacks are known to occur. We used data from the Icatibant Outcome Survey (IOS) to evaluate the characteristics of breakthrough attacks and the effectiveness of icatibant as a treatment option.METHODS: Data on LTP use, attacks, and treatments were recorded. Attack characteristics, treatment characteristics, and outcomes (time to treatment, time to resolution, and duration of attack) were compared for attacks that occurred with versus without LTP.RESULTS: Data on 3228 icatibant-treated attacks from 448 patients with C1-INH-HAE were analyzed; 30.1% of attacks occurred while patients were using LTP. Attack rate, attack severity, and the distribution of attack sites were similar across all types of LTP used, and were comparable to the results found in patients who did not receive LTP. Attacks were successfully treated with icatibant; 82.5% of all breakthrough attacks were treated with a single icatibant injection without C1-INH rescue medication. Treatment outcomes were comparable for breakthrough attacks across all LTP types, and for attacks without LTP.CONCLUSIONS: Patients who use LTP should be aware that breakthrough attacks can occur, and such attacks can be severe. Thus, patients with C1-INH-HAE using LTP should have emergency treatment readily available. Data from IOS show that icatibant is effective for the treatment of breakthrough attacks. Trial Registration NCT01034969.

Published
2017
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3. Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

Author

Demirkaya, E., Saglam, C., Turker, T., Kone-Paut, I., Woo, P., Doglio, M., Amaryan, G., Frenkel, J., Uziel, Y., Insalaco, A., Cantarini, L., Hofer, M., Boiu, S., Duzova, A., Modesto, C., Bryant, A., Rigante, D., Papadopoulou-Alataki, E., Guillaume-Czitrom, S., Kuemmerle-Deschner, J., Neven, B., Lachmann, H., Martini, A., Ruperto, N., Gattorno, M., Ozen, S., and Eurofever, Project

Subjects
Male, Pediatrics, Internationality, Familial Mediterranean fever, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, Tel Hashomer criteria, Diagnosis, Immunology and Allergy, Medicine, Yalcinkaya-Ozen criteria, Registries, 030212 general & internal medicine, Child, Non-U.S. Gov't, Children, education.field_of_study, Research Support, Non-U.S. Gov't, Statistics, Pharyngitis, Europe, Periodic fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Cohort, Female, medicine.symptom, Cohort study, medicine.medical_specialty, Autoinflammatory diseases, Familial mediterranean fever, Livneh criteria, Chi-Square Distribution, Diagnosis, Differential, Diagnostic Tests, Routine, Familial Mediterranean Fever, Fever, Hereditary Autoinflammatory Diseases, Humans, Retrospective Studies, Statistics, Nonparametric, Immunology, Population, Research Support, 03 medical and health sciences, Diagnostic Tests, Rheumatology, Severity of illness, Journal Article, Routine, Nonparametric, Preschool, education, 030203 arthritis & rheumatology, business.industry, Retrospective cohort study, Adenitis, medicine.disease, Differential, business
Abstract

Objective.Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).Methods.Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.Results.The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria.Conclusion.The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.

Published
2015
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4. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Author

Federici S., Sormani M. P., Ozen S., Lachmann H. J., Amaryan G., Woo P., Kone-Paut I., Dewarrat N., Cantarini L., Insalaco A., Uziel Y., Rigante D., Quartier P., Demirkaya E., Herlin T., Meini A., Fabio G., Kallinich T., Martino S., Butbul A. Y., Olivieri A., Kuemmerle-Deschner J., Neven B., Simon A., Ozdogan H., Touitou I., Frenkel J., Hofer M., Martini A., Ruperto N., Gattorno M., Espada G., Russo R., De Cunto C., Boros C., Borzutzky A., Jelusic-Drazic M., Dolezalova P., Nielsen S., Hentgen V., Schwarz T., Berendes R., Jansson A., Horneff G., Papadopoulou-Alataki E., Tsitsami E., Tsakalidou F. K., Gallizzi R., Obici L., Barone P., Cimaz R., Alessio M., Nishikomori R., Stanevicha V., Hoppenreijs E., Wolska-Kusnierz B., Iagaru N., Nikishina I., Al-Mayouf S. M., Sewairi, Susic G., Toplak N., Modesto C., Elorduy M. J. R., Anton J., Bou R., Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Kone-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S., Butbul, A. Y., Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., Espada, G., Russo, R., De Cunto, C., Boros, C., Borzutzky, A., Jelusic-Drazic, M., Dolezalova, P., Nielsen, S., Hentgen, V., Schwarz, T., Berendes, R., Jansson, A., Horneff, G., Papadopoulou-Alataki, E., Tsitsami, E., Tsakalidou, F. K., Gallizzi, R., Obici, L., Barone, P., Cimaz, R., Alessio, M., Nishikomori, R., Stanevicha, V., Hoppenreijs, E., Wolska-Kusnierz, B., Iagaru, N., Nikishina, I., Al-Mayouf, S. M., Sewairi, Susic, G., Toplak, N., Modesto, C., Elorduy, M. J. R., Anton, J., Bou, R., Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University of Genoa (UNIGE), Hacettepe University = Hacettepe Üniversitesi, National Amyloidosis Centre, University College London Medical School, University College of London [London] (UCL), 'ARABKIR' JOINT MEDICAL CENTER & INSTITUTE OF CHILD AND ADOLESCENT HEALTH, Cardiac Unit, Institute of Child Health (UCL), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), University Hospital Center (CHUV) and University of Lausanne (UNIL), Lausanne, Università degli Studi di Siena = University of Siena (UNISI), Children's Hospital Bambino Gesù IRCCS [Rome], Meir Medical Centre, Università cattolica del Sacro Cuore [Roma] (Unicatt), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Ankara University School of Medicine [Turkey], Aarhus University Hospital, Università degli Studi di Brescia [Brescia], IRCCS Istituto Nazionale dei Tumori [Milano], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Università degli studi di Torino (UNITO), Rambam Medical Health Center, Israel., Universita degli studi di Napoli 'Parthenope' [Napoli], Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Radboud University Medical Centre [Nijmegen, The Netherlands], Cerrahpasa Faculty of Medicine, Istanbul University, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Geneva University Hospital (HUG), Universita degli studi di Genova, and Olivieri, Alma Nunzia

Subjects
Male, Pediatrics, Multivariate analysis, [SDV]Life Sciences [q-bio], Fever Syndromes, Familial Mediterranean fever, Immunology and Allergy, Mevalonate Kinase Deficiency/classification/diagnosis, Registries, Child, ddc:618, Evidence-Based Medicine, Middle Aged, Pharyngitis, 3. Good health, Familial Mediterranean Fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Autoinflammation, Familial Mediterranean Fever/classification/diagnosis, Female, medicine.symptom, Periodic fever syndrome, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, medicine.medical_specialty, Fever, Adolescent, Immunology, Cryopyrin-Associated Periodic Syndromes/classification/diagnosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, Young Adult, Inflammation, Rheumatology, medicine, Humans, Preschool, Hereditary Autoinflammatory Diseases/classification/diagnosis, Receiver operating characteristic, business.industry, Hereditary Autoinflammatory Diseases, Case-control study, Cryopyrin-associated periodic syndrome, Infant, Gold standard (test), medicine.disease, Case-Control Studies, Cryopyrin-Associated Periodic Syndromes, Mevalonate Kinase Deficiency, ROC Curve, business
Abstract

Item does not contain fulltext The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.

Published
2015
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5. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008

Author

Gathmann B., Grimbacher B., Beauté J., Dudoit Y., Mahlaoui N., Fischer A., Knerr V., Kindle G., Micol R., Benslama L., Plebani A., Notarangelo L., PIGNATA, CLAUDIO, Bangs C., Lucas M., Tierney P., Core C., Dempster J., Exley A., Kumararatne D., Paschenko O., Kondratenko I., Shcherbina A., Velbri S., Ciznar P., Duobiene R., Kilic S., Kütükcüler N., Sanal O., Reisli I., Yegin O., Kanariou M., Papadopoulou Alataki E., Trachana M., Hatzistilianou M., Farber C.M., Meyts I., Pasic S., Richter D., Marodi L., Touitou I., Abuzakouk M., Feighery C., Thon V., Litzman J., Cucuruz M., Wolska B., Szaflarska A., Reda S., Soler P., Caragol I., Llobet P., Savchak I., Marques L., Koren A., Hörnes M., Shchebet S., Goldacker S., Ritterbusch H., Fasshauer M., Sollinger F., Witte T., Baumann U., Wittkowski H., Viemann D., Niehues T., Stimm H., Brodszki N., Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Gathmann, B., Grimbacher, B., Beauté, J., Dudoit, Y., Mahlaoui, N., Fischer, A., Knerr, V., Kindle, G., Micol, R., Benslama, L., Plebani, A., Notarangelo, L., Pignata, Claudio, Bangs, C., Lucas, M., Tierney, P., Core, C., Dempster, J., Exley, A., Kumararatne, D., Paschenko, O., Kondratenko, I., Shcherbina, A., Velbri, S., Ciznar, P., Duobiene, R., Kilic, S., Kütükcüler, N., Sanal, O., Reisli, I., Yegin, O., Kanariou, M., Papadopoulou Alataki, E., Trachana, M., Hatzistilianou, M., Farber, C. M., Meyts, I., Pasic, S., Richter, D., Marodi, L., Touitou, I., Abuzakouk, M., Feighery, C., Thon, V., Litzman, J., Cucuruz, M., Wolska, B., Szaflarska, A., Reda, S., Soler, P., Caragol, I., Llobet, P., Savchak, I., Marques, L., Koren, A., Hörnes, M., Shchebet, S., Goldacker, S., Ritterbusch, H., Fasshauer, M., Sollinger, F., Witte, T., Baumann, U., Wittkowski, H., Viemann, D., Niehues, T., Stimm, H., and Brodszki, N.

Subjects
Male, Databases, Factual, Quality Assurance, Health Care, International Cooperation, PID controller, registry, 0302 clinical medicine, Epidemiology, Prevalence, Immunology and Allergy, Data Protection Act 1998, Registries, Child, ComputingMilieux_MISCELLANEOUS, Password, ESID, 0303 health sciences, Immunoglobulins, Intravenous, Middle Aged, 3. Good health, Europe, Identification (information), Child, Preschool, Female, The Internet, epidemiology, Adult, medicine.medical_specialty, Adolescent, Immunology, online database, primary immunodeficiency, Young Adult, 03 medical and health sciences, medicine, Humans, Aged, 030304 developmental biology, Internet, business.industry, Immunologic Deficiency Syndromes, Infant, Newborn, Online database, Infant, Original Articles, medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Primary immunodeficiency, business, 030215 immunology
Abstract

Summary Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy. In order to estimate the prevalence of PID in Europe as well as to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Within 4 years, 7430 patients from 39 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity, with 1540 patients or 20·7% of all entries, followed by isolated immunoglobulin (Ig)G subclass deficiency (546 patients, 7·4%). Evaluations show that the average life expectancy for PID patients varies from 1 to 49 years (median), depending on the type of PID. The prevalence and incidence of PID remains a key question to be answered. As the registration progress is far from finished we can only calculate minimum values for PID, with e.g. France currently showing a minimum prevalence of 3·72 patients per 100 000 inhabitants. The most frequently documented permanent treatment is immunoglobulin replacement; 2819 patients (42% of all patients alive) currently receive this form of treatment.

Published
2009
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6. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Author

Gathmann, B., Mahlaoui, N., Gerard, L., Oksenhendler, E., Warnatz, K., Schulze, I., Kindle, G., Kuijpers, T.W., Dutch, W.I.D., Beem, R.T. van, Guzman, D., Workman, S., Soler-Palacin, P., Gracia, J., Witte, T. de, Schmidt, R.E., Litzman, J., Hlavackova, E., Thon, V., Borte, M., Borte, S., Kumararatne, D., Feighery, C., Longhurst, H., Helbert, M., Szaflarska, A., Sediva, A., Belohradsky, B.H., Jones, A., Baumann, U., Meyts, I., Kutukculer, N., Wagstrom, P., Galal, N.M., Roesler, J., Farmaki, E., Zinovieva, N., Ciznar, P., Papadopoulou-Alataki, E., Bienemann, K., Velbri, S., Panahloo, Z., Grimbacher, B., Meer, L.T. van der, Deuren, M. van, Netea, M.G., Meer, J.W.M. van der, AII - Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology, and Nephrology

Subjects
Male, Pediatrics, Delayed Diagnosis, granulomas, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], medicine.disease_cause, Autoimmunity, Quality of life, Interquartile range, Immunology and Allergy, Medicine, Enteropathy, Age of Onset, Child, Respiratory tract infections, biology, treatment, autoimmunity, Immunoglobulins, Intravenous, 3. Good health, Bronchiectasis, Europe, Child, Preschool, Female, Antibody, patient self-reported outcomes, Adult, medicine.medical_specialty, immunoglobulin replacement, Adolescent, Immunology, Lymphoproliferative disorders, Common variable immunodeficiency, lymphadenopathy, Humans, Retrospective Studies, business.industry, Pneumonia, medicine.disease, Survival Analysis, Lymphoproliferative Disorders, quality of life, enteropathy, Splenomegaly, biology.protein, primary antibody deficiency, business
Abstract

Item does not contain fulltext BACKGROUND: Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders. OBJECTIVE: This study analyzes the clinical presentation, association between clinical features, and differences and effects of immunoglobulin treatment in Europe. METHODS: Data on 2212 patients with CVID from 28 medical centers contributing to the European Society for Immunodeficiencies Database were analyzed retrospectively. RESULTS: Early disease onset (

Published
2014

7. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė, Translational Immunology Groningen (TRIGR), Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, University of Zurich, Ehl, Stephan, Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppanen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S., Boztug, K., Brunner, J., Demel, U. F., Forster-Waldl, E., Gasteiger, L. M., Goschl, L., Kojic, M., Schroll, A., Seidel, M. G., Wintergerst, U., Wisgrill, L., Sharapova, S. O., Goffard, J. -C., Kerre, T., Meyts, I., Roosens, F., Smet, J., Haerynck, F., Eric, Z. P., Milenova, V., Gagro, A., Richter, D., Chovancova, Z., Hlavackova, E., Litzman, J., Milota, T., Sediva, A., Elaziz, D. A., Alkady, R. S., El Sayed El Hawary, R., Eldash, A. S., Galal, N., Lotfy, S., Meshaal, S. S., Reda, S. M., Sobh, A., Elmarsafy, A., Brosselin, P., Courteille, V., De Vergnes, N., Kracker, S., Pergent, M., Randrianomenjanahary, P., Ahrenstorf, G., Albert, M. H., Ankermann, T., Atschekzei, F., Baumann, U., Becker, B. C., Behrends, U., Belohradsky, B. H., Biegner, A. -K., Binder, N., Bode, S. F. N., Boesecke, C., Boetticher, B., Borte, M., Borte, S., Classen, C. F., Dirks, J., Duckers, G., El-Helou, S., Ernst, D., Fasshauer, M., Fecker, G., Felgentreff, K., Foell, D., Ghosh, S., Girschick, H. J., Goldacker, S., Graf, N., Graf, D., Greil, J., Hanitsch, L. G., Hauck, F., Heeg, M., Heine, S. I., Henes, J. C., Hoenig, M., Holzer, U., Holzinger, D., Horneff, G., Hundsdoerfer, P., Jablonka, A., Jakoby, D., Joean, O., Kaiser-Labusch, P., Klemann, C., Kobbe, R., Korholz, J., Kramm, C. M., Kruger, R., Landwehr-Kenzel, S., Lehmberg, K., Liese, J. G., Lippert, C. F., Maccari, M. E., Masjosthusmann, K., Meinhardt, A., Metzler, M., Morbach, H., Muller, I., Naumann-Bartsch, N., Neubert, J., Niehues, T., Peter, H. -H., Rieber, N., Ritterbusch, H., Rockstroh, J. K., Roesler, J., Schauer, U., Scheible, R., Schmalzing, M., Schmidt, R. E., Schneider, D. T., Schreiber, S., Schuetz, C., Schulz, A., Schulze-Koops, H., Schulze-Sturm, U., Schuster, V., Schwaneck, E. C., Schwarz, K., Schwarze-Zander, C., Sirin, M., Skapenko, A., Sogkas, G., Sparber-Sauer, M., Speckmann, C., Steinmann, S., Stiehler, S., Tenbrock, K., von Bernuth, H., Warnatz, K., Wasmuth, J. -C., Weiss, M., Witte, T., Wittke, K., Wittkowski, H., Zeuner, R. A., Farmaki, E., Hatzistilianou, M. N., Kakkas, I., Kanariou, M. G., Kapousouzi, A., Liatsis, E., Maggina, P., Papadopoulou-Alataki, E., Raptaki, M., Speletas, M., Tantou, S., Goda, V., Krivan, G., Marodi, L., Abolhassani, H., Aghamohammadi, A., Rezaei, N., Feighery, C., Leahy, T. R., Ryan, P., Batzir, N. A., Garty, B. Z., Tamary, H., Aiuti, A., Amodio, D., Azzari, C., Barzaghi, F., Baselli, L. A., Cancrini, C., Carrabba, M., Cazzaniga, M., Cesaro, S., Chinello, M., Danieli, M. G., Dellepiane, R. M., Fabio, G., Gambineri, E., Lodi, L., Lougaris, V., Marasco, C., Martire, B., Marzollo, A., Milito, C., Moschese, V., Pignata, C., Plebani, A., Porta, F., Quinti, I., Ricci, S., Soresina, A., Tommasini, A., Vacca, A., Vanessa, C., Blaziene, A., Sitkauskiene, B., Gowin, E., Heropolitanska-Pliszka, E., Pietrucha, B., Szaflarska, A., Wiesik-Szewczyk, E., Wolska-Kusnierz, B., Esteves, I., Faria, E., Marques, L. H., Neves, J. F., Silva, S. L., Teixeira, C., Pereira da Silva, S., Capilna, B. R., Guseva, M. N., Shcherbina, A., Bobcakova, A., Ciznar, P., Gabzdilova, J., Jesenak, M., Kapustova, L., Orosova, J., Petrovicova, O., Raffac, S., Kopac, P., Allende, L. M., Antoli, A., Blanch, G. R., Carbone, J., Dieli-Crimi, R., Garcia-Prat, M., Gil-Herrera, J., Gonzalez-Granado, L. I., Agullo, P. L., Olbrich, P., Parra-Martinez, A., Paz-Artal, E., Pleguezuelo, D. E., Rodriguez, N. S., Sanchez-Ramon, S., Santos-Perez, J. L., Solanich, X., Soler-Palacin, P., Gonzalez-Amores, M., Ekwall, O., Fasth, A., Bitzenhofer-Gruber, M., Candotti, F., Dimitriou, F., Heininger, U., Holbro, A., Jandus, P., Kolios, A. G. A., Marschall, K., Schmid, J. P., Posfay-Barbe, K. M., Prader, S., Reichenbach, J., Steiner, U. C., Truck, J., Bredius, R. G., de Kruijf- Bazen, S., de Vries, E., Henriet, S. S. V., Kuijpers, T. W., Potjewijd, J., Rutgers, A., Stol, K., van Aerde, K. J., Van den Berg, J. M., van de Ven, A. A. J. M., Montfrans, J., Aydemir, S., Baris, S., Dogu, F., Ikinciogullari, A., Karakoc-Aydiner, E., Kilic, S. S., Kiykim, A., Kokcu Karadag, S. I., Kutukculer, N., Ocak, S., Unal, E., Boyarchuk, O., Hilfanova, A., Kostyuchenko, L. V., Alachkar, H., Arkwright, P. D., Baxendale, H. E., Bernatoniene, J., Coulter, T. I., Garcez, T., Goddard, S., Gompels, M. M., Grigoriadou, S., Herriot, R., Herwadkar, A., Huissoon, A., Ibberson, L., Nademi, Z., Noorani, S., Parvin, S., Steele, C. L., Thomas, M., Waruiru, C., Yong, P. F. K., and Bourne, H.

Subjects
0301 basic medicine, Male, Pediatrics, syndromic, Sex Factor, Disease, registry, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Primary Immunodeficiency Disease, inborn error of immunity, Immunology and Allergy, warning signs, Age Factor, Registries, Family history, presenting symptom, Child, Primary immunodeficiency, Granuloma, autoimmune, immune dysregulation, inflammatory, Adult, Autoimmune Diseases, Female, Humans, Infections, Lymphoproliferative Disorders, Middle Aged, Primary Immunodeficiency Diseases, Sex Factors, Age Factors, 10177 Dermatology Clinic, Infections/epidemiology, 3. Good health, Settore MED/02, Warning signs, Lymphoproliferative Disorder, 2723 Immunology and Allergy, Infection, Human, medicine.medical_specialty, Immunology, 610 Medicine & health, Malignancy, primary immunodeficiency, Autoimmune Disease, 03 medical and health sciences, Immunity, Autoimmune Diseases/epidemiology, medicine, 2403 Immunology, business.industry, warning sign, Common variable immunodeficiency, Granuloma/epidemiology, Immune dysregulation, medicine.disease, Primary Immunodeficiency Diseases/epidemiology, 030104 developmental biology, Lymphoproliferative Disorders/epidemiology, Cohort Studie, business, 030215 immunology
Abstract

BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.OBJECTIVE: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.METHODS: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.RESULTS: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.CONCLUSIONS: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.

Published
2021

8. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

Author

Joost Frenkel, Valda Stanevica, Michael Hofer, Francesco Licciardi, Antonella Insalaco, Rolando Cimaz, Riccardo Papa, Alma Nunzia Olivieri, Nienke M. ter Haar, Nicolino Ruperto, Susan Nielsen, Paul A. Brogan, Consuelo Modesto, Nicolae Iagaru, Marco Gattorno, Sarka Fingerhutova, Charlotte Eijkelboom, Antonio Vitale, Marielle E. van Gijn, Luca Cantarini, Marija Jelušić, Yosef Uziel, Gordana Susic, Efimia Papadopoulou-Alataki, Isabelle Koné-Paut, Irina Nikishina, Ter Haar, Nm, Eijkelboom, C, Cantarini, L, Papa, R, Brogan, Pa, Kone-Paut, I, Modesto, C, Hofer, M, Iagaru, N, Fingerhutová, S, Insalaco, A, Licciardi, F, Uziel, Y, Jelusic, M, Nikishina, I, Nielsen, S, Papadopoulou-Alataki, E, Olivieri, An, Cimaz, R, Susic, G, Stanevica, V, van Gijn, M, Vitale, A, Ruperto, N, Frenkel, J, and Gattorno, M

Subjects
Male, myalgia, Abdominal pain, Biochemistry, 0302 clinical medicine, eurofever, Adrenal Cortex Hormones, autoinflammatory diseases, inflammation, recurrent fever, Immunology and Allergy, Registries, Age of Onset, Child, 0303 health sciences, Pedigree, 3. Good health, Europe, Child, Preschool, Antirheumatic Agents, Adolescent, Adult, Chronic Disease, Colchicine, Female, Genetic Variation, Hereditary Autoinflammatory Diseases, Humans, Interleukin 1 Receptor Antagonist Protein, Retrospective Studies, Young Adult, medicine.symptom, medicine.drug, medicine.medical_specialty, Immunology, Mucocutaneous zone, General Biochemistry, Genetics and Molecular Biology, Malaise, 03 medical and health sciences, Pericarditis, Rheumatology, Internal medicine, Journal Article, medicine, Recurrent disease, Preschool, 030304 developmental biology, 030203 arthritis & rheumatology, Anakinra, Biochemistry, Genetics and Molecular Biology(all), business.industry, medicine.disease, business, Genetics and Molecular Biology(all)
Abstract

ObjectivesTo describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs).MethodsClinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases.ResultsThis study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%).ConclusionThis study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.

Published
2019

9. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author

Haar, Nienke Ter, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yosef, Modesto, Consuelo, Koné Paut, Isabelle, Cantarini, Luca, Insalaco, Antonella, Neven, Bénédicte, Hofer, Michael, Rigante, Donato, Al Mayouf, Sulaiman, Touitou, Isabelle, Gallizzi, Romina, Papadopoulou Alataki, Efimia, Martino, Silvana, Kuemmerle Deschner, Jasmin, Obici, Laura, Iagaru, Nicolae, Simon, Anna, Nielsen, Susan, Martini, Alberto, Ruperto, Nicolino, Gattorno, Marco, Frenkel, Joost, Kondi, A, De Cunto, C, Espada, G, Russo, R, Amaryan, G, Boros, C, Wouters, C, de Oliveira SK, Borzutzky, A, Jelusic Drazic, M, Dolezalova, P, Herlin, T, Desjonqueres, M, Djeddi, D, Hentgen, V, Darce, M, Ioseliani, M, Berendes, R, Horneff, G, Jansson, A, Minden, K, Schwarz, T, Trauzeddel, R, Kanakoudi Tsakalidou, F, Vougiouka, O, Constantin, T, Rao, Ap, Brik, R, Harel, L, Alessio, M, Breda, L, Cimaz, R, Consolini, Rita, Fabio, G, Garozzo, R, Lepore, L, Manna, R, Meini, A, Olivieri, An, Stanevicha, V, Rusoniene, S, Hoppenreijs, E, Al Abrawi Sy, Nikishina, I, Sewairi, Wm, Susic, G, Ciznar, P, Avcin, T, Anton, J, Bou, R, Merino, R, Elorduy, Mj, Fasth, A, Aksu, G, Demirkaya, E., Ter Haar, N., Lachmann, H., Özen, S., Woo, P., Uziel, Y., Modesto, C., Koné Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou Alataki, E., Martino, S., Kuemmerle Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., and Olivieri, Alma Nunzia

Subjects
Genetics and Molecular Biology (all), medicine.medical_specialty, PFAPA syndrome, Immunology, autoinflammatory diseases, Eurofever, Registry, Familial Mediterranean fever, Disease, Biochemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, autoinflammatory disease, Internal medicine, Acne Vulgaris, medicine, Immunology and Allergy, Humans, Registries, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Arthritis, Infectious, Mevalonate kinase deficiency, business.industry, Hyper-IgD syndrome, Arthritis, Settore MED/09 - MEDICINA INTERNA, Infectious, Cryopyrin-associated periodic syndrome, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Pyoderma Gangrenosum, 3. Good health, Familial Mediterranean Fever, Pathogenesis and modulation of inflammation [N4i 1], Europe, TNF receptor associated periodic syndrome, Mevalonate Kinase Deficiency, Biochemistry, Genetics and Molecular Biology (all), business
Abstract

Item does not contain fulltext OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

Published
2013

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