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J Allergy Clin Immunol Pract. 2019 Feb 15. pii: S2213-2198(19)30168-0. doi: 10.1016/j.jaip.2019.02.004. [Epub ahead of print]

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

Author information

1
Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Research Unit for Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria. Electronic address: markus.seidel@medunigraz.at.
2
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Central Facility Biobanking, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
3
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
4
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
5
Great Ormond St Hospital for Children NHS Foundation Trust and UCL Institute of Molecular and Cellular Immunology, Institute of Child Health, London, UK.
6
Pediatric Immunology and Infectious Diseases, UMC Utrecht, Utrecht, the Netherlands.
7
Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Research Unit for Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria.
8
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; DZIF, German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany; CIBSS - Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany.
9
CEREDIH, French National Reference Centre for Primary ImmunoDeficiencies and Pediatric Immuno-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
10
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: stephan.ehl@uniklinik-freiburg.de.

Abstract

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.

KEYWORDS:

Classification; Consensus; Diagnostic algorithm; Epidemiology; Guideline; Primary immune deficiency and immune dysregulation disorder (PIDD); Primary immunodeficiency (PID); Registry

PMID:
30776527
DOI:
10.1016/j.jaip.2019.02.004

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