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

by Torgerson, Troy R , Oksenhendler, Eric , Sullivan, Kathleen E , Chatila Talal , Ochs, Hans D , Ailal Fatima , Holland, Steven M , Puck, Jennifer , Aziz, Bousfiha , Tangye Stuart G , Klein, Christoph , Picard Capucine , Jean-Laurent, Casanova , Al-Herz, Waleed , Cunningham-Rundles, Charlotte , Etzioni Amos , Jeddane Leila , Franco, Jose Luis , Morio Tomohiro

in Allergies / Autoimmunity / Classification / Immunity / Malignancy / Phenotypes

2020

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

in Allergies / Autoimmunity / Classification / Immunity / Malignancy / Phenotypes

2020

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

in Allergies / Autoimmunity / Classification / Immunity / Malignancy / Phenotypes

2020

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Journal Article

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

Torgerson, Troy R,

Oksenhendler, Eric,

Sullivan, Kathleen E,

Chatila Talal,

Ochs, Hans D,

Ailal Fatima,

Holland, Steven M,

Puck, Jennifer,

Aziz, Bousfiha,

Tangye Stuart G,

Klein, Christoph,

Picard Capucine,

Jean-Laurent, Casanova,

Al-Herz, Waleed,

Cunningham-Rundles, Charlotte,

Etzioni Amos,

Jeddane Leila,

Franco, Jose Luis,

Morio Tomohiro

2020

Overview

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.

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Springer Nature B.V

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