Статья

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Stuart G. TangyeFaculty of Medicine, St Vincent's Clinical School, UNSW, Sydney, NSW, Australia. [email protected]Waleed Al–HerzDepartment of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, KuwaitAziz BousfihaKing Hassan II University, Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA at Faculty of Medicine and Pharmacy, Clinical Immunology Unit, Pediatric Infectiouse Disease Department, Children's Hospital, Ibn Rochd University Hospital, Casablanca, MoroccoTalal A. ChatilaDivision of Immunology, Children's Hospital Boston, Boston, MA, USACharlotte Cunningham‐RundlesDepartments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USAAmos EtzioniRuth's Children's Hospital-Technion, Haifa, IsraelJosé Luis FrancoGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, ColombiaSteven M. HollandLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USAChristoph KleinDr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, GermanyTomohiro MorioDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, JapanHans D. OchsDepartment of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USAÉric OksenhendlerDepartment of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris Cité, Paris, FranceCapucine PïcardParis University, Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, FranceJennifer M. PuckDepartment of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USATroy R. TorgersonDepartment of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USAJean‐Laurent CasanovaHoward Hughes Medical Institute, New York, NY, USAKathleen E. SullivanDivision of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

2020en

ABI

Аннотация

We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.

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Идентификаторы

DOI: 10.1007/s10875-019-00737-x

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Цитирований: 2Использованных источников: 0

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