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Erschienen in: Journal of Clinical Immunology 7/2022

06.10.2022 | Original Article

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

verfasst von: Aziz Bousfiha, Abderrahmane Moundir, Stuart G. Tangye, Capucine Picard, Leïla Jeddane, Waleed Al-Herz, Charlotte C. Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Anne Puel, Jennifer Puck, Mikko R. J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts

Erschienen in: Journal of Clinical Immunology | Ausgabe 7/2022

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Abstract

The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.
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Metadaten
Titel
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
verfasst von
Aziz Bousfiha
Abderrahmane Moundir
Stuart G. Tangye
Capucine Picard
Leïla Jeddane
Waleed Al-Herz
Charlotte C. Rundles
Jose Luis Franco
Steven M. Holland
Christoph Klein
Tomohiro Morio
Eric Oksenhendler
Anne Puel
Jennifer Puck
Mikko R. J. Seppänen
Raz Somech
Helen C. Su
Kathleen E. Sullivan
Troy R. Torgerson
Isabelle Meyts
Publikationsdatum
06.10.2022
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 7/2022
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-022-01352-z

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