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

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 i...

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Autores principales: Bousfiha, Aziz, Jeddane, Leila, Picard, Capucine, Al-Herz, Waleed, Ailal, Fatima, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D., Oksenhendler, Eric, Puck, Jennifer, Torgerson, Troy R., Casanova, Jean-Laurent, Sullivan, Kathleen E., Tangye, Stuart G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082388/
https://www.ncbi.nlm.nih.gov/pubmed/32048120
http://dx.doi.org/10.1007/s10875-020-00758-x
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author Bousfiha, Aziz
Jeddane, Leila
Picard, Capucine
Al-Herz, Waleed
Ailal, Fatima
Chatila, Talal
Cunningham-Rundles, Charlotte
Etzioni, Amos
Franco, Jose Luis
Holland, Steven M
Klein, Christoph
Morio, Tomohiro
Ochs, Hans D.
Oksenhendler, Eric
Puck, Jennifer
Torgerson, Troy R.
Casanova, Jean-Laurent
Sullivan, Kathleen E.
Tangye, Stuart G.
author_facet Bousfiha, Aziz
Jeddane, Leila
Picard, Capucine
Al-Herz, Waleed
Ailal, Fatima
Chatila, Talal
Cunningham-Rundles, Charlotte
Etzioni, Amos
Franco, Jose Luis
Holland, Steven M
Klein, Christoph
Morio, Tomohiro
Ochs, Hans D.
Oksenhendler, Eric
Puck, Jennifer
Torgerson, Troy R.
Casanova, Jean-Laurent
Sullivan, Kathleen E.
Tangye, Stuart G.
author_sort Bousfiha, Aziz
collection PubMed
description 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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spelling pubmed-70823882020-03-23 Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification Bousfiha, Aziz Jeddane, Leila Picard, Capucine Al-Herz, Waleed Ailal, Fatima Chatila, Talal Cunningham-Rundles, Charlotte Etzioni, Amos Franco, Jose Luis Holland, Steven M Klein, Christoph Morio, Tomohiro Ochs, Hans D. Oksenhendler, Eric Puck, Jennifer Torgerson, Troy R. Casanova, Jean-Laurent Sullivan, Kathleen E. Tangye, Stuart G. J Clin Immunol Original Article 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. Springer US 2020-02-11 2020 /pmc/articles/PMC7082388/ /pubmed/32048120 http://dx.doi.org/10.1007/s10875-020-00758-x Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Original Article
Bousfiha, Aziz
Jeddane, Leila
Picard, Capucine
Al-Herz, Waleed
Ailal, Fatima
Chatila, Talal
Cunningham-Rundles, Charlotte
Etzioni, Amos
Franco, Jose Luis
Holland, Steven M
Klein, Christoph
Morio, Tomohiro
Ochs, Hans D.
Oksenhendler, Eric
Puck, Jennifer
Torgerson, Troy R.
Casanova, Jean-Laurent
Sullivan, Kathleen E.
Tangye, Stuart G.
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
title Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
title_full Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
title_fullStr Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
title_full_unstemmed Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
title_short Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
title_sort human inborn errors of immunity: 2019 update of the iuis phenotypical classification
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082388/
https://www.ncbi.nlm.nih.gov/pubmed/32048120
http://dx.doi.org/10.1007/s10875-020-00758-x
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