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

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 th...

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Published in	Journal of clinical immunology Vol. 40; no. 1; pp. 24 - 64
Main Authors	Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Ochs, Hans D., Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Torgerson, Troy R., Casanova, Jean-Laurent, Sullivan, Kathleen E.
Format	Journal Article
Language	English
Published	New York Springer US 01.01.2020 Springer Nature B.V
Subjects	Biomedical and Life Sciences Biomedicine Defects Immunity Immunology Infectious Diseases Internal Medicine Medical Microbiology Molecular modelling Next-generation sequencing Original Original Article Phenotypes Primary immunodeficiencies autoinflammatory disorders inborn errors of immunity IUIS next-generation sequencing primary immune deficiency immune dysregulation
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Abstract	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.
AbstractList	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.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. 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. 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.
Author	Oksenhendler, Eric Ochs, Hans D. Tangye, Stuart G. Bousfiha, Aziz Holland, Steven M. Puck, Jennifer Etzioni, Amos Chatila, Talal Klein, Christoph Al-Herz, Waleed Cunningham-Rundles, Charlotte Casanova, Jean-Laurent Sullivan, Kathleen E. Torgerson, Troy R. Picard, Capucine Morio, Tomohiro Franco, Jose Luis
Author_xml	– sequence: 1 givenname: Stuart G. orcidid: 0000-0002-5360-5180 surname: Tangye fullname: Tangye, Stuart G. email: s.tangye@garvan.org.au organization: Garvan Institute of Medical Research, Faculty of Medicine, St Vincent’s Clinical School, UNSW – sequence: 2 givenname: Waleed surname: Al-Herz fullname: Al-Herz, Waleed organization: Department of Pediatrics, Faculty of Medicine, Kuwait University – sequence: 3 givenname: Aziz surname: Bousfiha fullname: Bousfiha, Aziz organization: King 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 – sequence: 4 givenname: Talal surname: Chatila fullname: Chatila, Talal organization: Division of Immunology, Children’s Hospital Boston – sequence: 5 givenname: Charlotte surname: Cunningham-Rundles fullname: Cunningham-Rundles, Charlotte organization: Departments of Medicine and Pediatrics, Mount Sinai School of Medicine – sequence: 6 givenname: Amos surname: Etzioni fullname: Etzioni, Amos organization: Ruth’s Children’s Hospital-Technion – sequence: 7 givenname: Jose Luis surname: Franco fullname: Franco, Jose Luis organization: Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA – sequence: 8 givenname: Steven M. surname: Holland fullname: Holland, Steven M. organization: Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 9 givenname: Christoph surname: Klein fullname: Klein, Christoph organization: Dr von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich – sequence: 10 givenname: Tomohiro surname: Morio fullname: Morio, Tomohiro organization: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) – sequence: 11 givenname: Hans D. surname: Ochs fullname: Ochs, Hans D. organization: Department of Pediatrics, University of Washington and Seattle Children’s Research Institute – sequence: 12 givenname: Eric surname: Oksenhendler fullname: Oksenhendler, Eric organization: Department of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris Cité – sequence: 13 givenname: Capucine surname: Picard fullname: Picard, Capucine organization: Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris University, Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children – sequence: 14 givenname: Jennifer surname: Puck fullname: Puck, Jennifer organization: Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital – sequence: 15 givenname: Troy R. surname: Torgerson fullname: Torgerson, Troy R. organization: Department of Pediatrics, University of Washington and Seattle Children’s Research Institute – sequence: 16 givenname: Jean-Laurent surname: Casanova fullname: Casanova, Jean-Laurent organization: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, Howard Hughes Medical Institute, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (APHP) – sequence: 17 givenname: Kathleen E. surname: Sullivan fullname: Sullivan, Kathleen E. organization: Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine
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Copyright	The Author(s) 2020. corrected publication 2020 Journal of Clinical Immunology is a copyright of Springer, (2020). All Rights Reserved. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. The Author(s) 2020, corrected publication 2020
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Keywords	autoinflammatory disorders inborn errors of immunity IUIS next-generation sequencing primary immune deficiency immune dysregulation
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39 R Carapito (737_CR81) 2017; 127 I Meyts (737_CR7) 2016; 138 737_CR80 A Fabre (737_CR64) 2012; 90 32086639 - J Clin Immunol. 2020 Feb 22
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Snippet	We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies...
SourceID	pubmedcentral proquest pubmed crossref springer
SourceType	Open Access Repository Aggregation Database Index Database Enrichment Source Publisher
StartPage	24
SubjectTerms	Biomedical and Life Sciences Biomedicine Defects Immunity Immunology Infectious Diseases Internal Medicine Medical Microbiology Molecular modelling Next-generation sequencing Original Original Article Phenotypes Primary immunodeficiencies
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Title	Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
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