1. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity
- Author
-
Vojtech Thon, Bénédicte Neven, Frank L. van de Veerdonk, Anna Villa, Mario Abinun, Jean Donadieu, Christoph Klein, Hans D. Ochs, Despina Moshous, Geneviève de Saint Basile, Klaus Warnatz, Alain Fischer, Sofia Grigoriadou, Nizar Mahlaoui, Raphael Scheible, Dominique Stoppa-Lyonnet, Nicolette Moes, Shen-Yin Zhang, Reinhard Seger, Isabelle Meyts, Sarah Beaussant Cohen, Andrew J. Cant, Bodo Grimbacher, Markus G. Seidel, Frédéric Rieux-Laucat, Michael H. Albert, Lukas M. Gasteiger, Stephan Ehl, David Edgar, Joris M. van Montfrans, Ania Manson, Maria Kanariou, Richard Gatti, Capucine Picard, Teresa Espanol, Beata Wolska, Amos Etzioni, Anne Durandy, Stephan Rusch, Jacinta Bustamante, Gerhard Kindle, Esther de Vries, Andrew R. Gennery, Annarosa Soresina, Benjamin Gathmann, Helen Chapel, Isabella Quinti, Steven M. Holland, Helen J. Lachmann, Adrian J. Thrasher, Inderjeet Dokal, Ellen D. Renner, Gritta Janka, Natalia Martinez, Bobby Gaspar, Desa Lilic, Matthew Buckland, Jean-Laurent Casanova, Corry M.R. Weemaes, Tranzo, Scientific center for care and wellbeing, and Huisarts & Ziekenhuis
- Subjects
medicine.medical_specialty ,Registry ,Consensus ,Epidemiology ,Primary immune deficiency and immune dysregulation disorder (PIDD) ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,Diagnostic algorithm ,Disease ,Guideline ,Classification ,Primary immunodeficiency (PID) ,Immunology and Allergy ,03 medical and health sciences ,0302 clinical medicine ,HISTORY ,medicine ,Journal Article ,Humans ,030212 general & internal medicine ,Registries ,Intensive care medicine ,Societies, Medical ,GuidelineDiagnostic algorithmClassification ,WARNING SIGNS ,business.industry ,Common variable immunodeficiency ,Genetic Diseases, Inborn ,Immunologic Deficiency Syndromes ,medicine.disease ,Clinical trial ,Europe ,Clinical research ,030228 respiratory system ,Sample size determination ,Clinical diagnosis ,DISEASES ,business - Abstract
Item does not contain fulltext Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for epidemiological and clinical research and to assess the feasibility of clinical trials. The European Society for Immunodeficiencies (ESID) registry currently comprises information on more than 25,000 patients with inborn errors of immunity (IEI). The prerequisite of a patient to be included into the ESID registry is an IEI either defined by a defect in a gene included in the disease classification of the international union of immunological societies, or verified by applying clinical criteria. Because a relevant number of patients, including those with common variable immunodeficiency (CVID), representing the largest group of patients in the registry, remain without a genetic diagnosis, consensus on classification of these patients is mandatory. Here, we present clinical criteria for a large number of IEI that were designed in expert panels with an external review. They were implemented for novel entries and verification of existing data sets from 2014, yielding a substantial refinement. For instance, 8% of adults and 27% of children with CVID (176 of 1704 patients) were reclassified to 22 different immunodeficiencies, illustrating progress in genetics, but also the previous lack of standardized disease definitions. Importantly, apart from registry purposes, the clinical criteria are also helpful to support treatment decisions in the absence of a genetic diagnosis or in patients with variants of unknown significance.
- Published
- 2019