Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.,Journal of Clinical Immunology

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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Journal of Clinical Immunology ( IF 7.2 ) Pub Date : 2020-02-11 , DOI: 10.1007/s10875-020-00758-x
Aziz Bousfiha _{1,

2} , Leila Jeddane ₃ , Capucine Picard _{4,

5} , Waleed Al-Herz ₆ , Fatima Ailal ₁ , Talal Chatila ₇ , Charlotte Cunningham-Rundles ₈ , Amos Etzioni ₉ , Jose Luis Franco ₁₀ , Steven M Holland ₁₁ , Christoph Klein ₁₂ , Tomohiro Morio ₁₃ , Hans D Ochs ₁₄ , Eric Oksenhendler ₁₅ , Jennifer Puck ₁₆ , Troy R Torgerson ₁₄ , Jean-Laurent Casanova _{17,

18,

19,

20} , Kathleen E Sullivan ₂₁ , Stuart G Tangye _{22,

23}

Affiliation

Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA, Faculty of Medecine and Pharmacy, King Hassan II University, Casablanca, Morocco.
Clinical Immunology Unit, Pediatric Infectiouse Disease Departmentn Children's Hospital, Ibn Rochd University Hospital, Casablanca, Morocco.
Laboratoire national de référence, University Mohamed VI of Health Sciences, Casablanca, Morocco.
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris University, Paris, France.
Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Division of Immunology, Children's Hospital Boston, Boston, USA.
Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, USA.
Ruth's Children's Hospital-Technion, Haifa, Israel.
Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, USA.
Department of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris, Cité, Paris, France.
Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, USA.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA.
Howard Hughes Medical Institute, New York, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, USA.
Garvan Institute of Medical Research, Darlinghurst, Australia.
St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia.

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.

中文翻译：

人类与生俱来的免疫错误：IUIS表型分类的2019年更新。

自2013年以来，国际免疫学会联盟（IUIS）的先天性免疫错误专家委员会（ECI）发布了最新的IEI表型分类，该表将其基因型分类伴随并补充了十个表格。这种表型分类是用户友好的，可作为床边临床医生的资源。现在有430种单基因IEI基本表型，如感染，恶性肿瘤，变态反应，自身免疫性和自身炎症。我们在此报告2019年的表型分类，包括65种新情况。诊断算法基于IEI的十大类别中每一个的临床和实验室表型。

更新日期：2020-02-11

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