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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.

Abstract：

:Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Bousfiha A,Jeddane L,Picard C,Al-Herz W,Ailal F,Chatila T,Cunningham-Rundles C,Etzioni A,Franco JL,Holland SM,Klein C,Morio T,Ochs HD,Oksenhendler E,Puck J,Torgerson TR,Casanova JL,Sullivan KE,Tangye SG

doi

10.1007/s10875-020-00758-x

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

66-81

issue

1

eissn

0271-9142

issn

1573-2592

pii

10.1007/s10875-020-00758-x

journal_volume

40

pub_type

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