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

Publication date: Available online 15 February 2019Source: The Journal of Allergy and Clinical Immunology: In PracticeAuthor(s): Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann, Isabella Quinti, Matthew Buckland, Joris van Montfrans, Raphael Scheible, Stephan Rusch, Lukas M. Gasteiger, Bodo Grimbacher, Nizar Mahlaoui, Stephan Ehl, Michael Albert, Sarah Beaussant Cohen, Jacinta Bustamante, Andrew Cant, Jean-Laurent Casanova, Helen Chapel, Genevieve de Saint Basile, Esther de VriesAbstractPatient 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>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 (IUIS), 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, remains 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 external review. They ...
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research