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Selected Publication:

SHR Neuro Cancer Cardio Lipid

Seidel, MG; Kindle, G; Gathmann, B; Quinti, I; Buckland, M; van Montfrans, J; Scheible, R; Rusch, S; Gasteiger, LM; Grimbacher, B; Mahlaoui, N; Ehl, S; ESID Registry Working Party Mario Abinun.
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
J Allergy Clin Immunol Pract. 2019;
PubMed FullText FullText_MUG


Authors Med Uni Graz:
Seidel Markus

Dimensions Citations:

Plum Analytics:
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 >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 were implemented for novel entries and verification of existing datasets from 2014, yielding a substantial refinement. For instance, 8% of adults and 27% of children with CVID (176 out 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. Copyright © 2019. Published by Elsevier Inc.

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