The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent...
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| Published in | Journal of clinical immunology Vol. 41; no. 3; pp. 666 - 679 |
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| Main Authors | , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Springer US
01.04.2021
Springer Nature B.V |
| Subjects | |
| Online Access | Get full text |
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| Abstract | The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects. |
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| AbstractList | The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects. The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects. |
| Author | Oksenhendler, Eric Seppänen, Mikko R. J. Tangye, Stuart G. Bousfiha, Aziz Somech, Raz Meyts, Isabelle Holland, Steven M Puel, Anne Puck, Jennifer Klein, Christoph Al-Herz, Waleed Cunningham-Rundles, Charlotte Sullivan, Kathleen E. Torgerson, Troy R. Picard, Capucine Morio, Tomohiro Franco, Jose Luis Su, Helen C |
| 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 Sydney – 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: Laboratoire d’Immunologie Clinique, d’Inflammation et d’Allergy LICIA Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University – sequence: 4 givenname: Charlotte surname: Cunningham-Rundles fullname: Cunningham-Rundles, Charlotte organization: Departments of Medicine and Pediatrics, Mount Sinai School of Medicine – sequence: 5 givenname: Jose Luis surname: Franco fullname: Franco, Jose Luis organization: Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA – sequence: 6 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: 7 givenname: Christoph surname: Klein fullname: Klein, Christoph organization: Dr von Hauner Childrens Hospital, Ludwig-Maximilians-University Munich – sequence: 8 givenname: Tomohiro surname: Morio fullname: Morio, Tomohiro organization: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University – sequence: 9 givenname: Eric surname: Oksenhendler fullname: Oksenhendler, Eric organization: Department of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot – sequence: 10 givenname: Capucine surname: Picard fullname: Picard, Capucine organization: Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University – sequence: 11 givenname: Anne surname: Puel fullname: Puel, Anne organization: Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, Imagine Institute, University of Paris – sequence: 12 givenname: Jennifer surname: Puck fullname: Puck, Jennifer organization: Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital – sequence: 13 givenname: Mikko R. J. surname: Seppänen fullname: Seppänen, Mikko R. J. organization: Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center and Rare Diseases Center, Childrens Hospital, University of Helsinki and Helsinki University Hospital – sequence: 14 givenname: Raz surname: Somech fullname: Somech, Raz organization: Pediatric Department and Immunology Unit, Sheba Medical Center – sequence: 15 givenname: Helen C surname: Su fullname: Su, Helen C organization: Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health – sequence: 16 givenname: Kathleen E. surname: Sullivan fullname: Sullivan, Kathleen E. organization: Division of Allergy Immunology, Department of Pediatrics, Childrens Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine – sequence: 17 givenname: Troy R. surname: Torgerson fullname: Torgerson, Troy R. organization: Allen Institute for Immunology – sequence: 18 givenname: Isabelle surname: Meyts fullname: Meyts, Isabelle organization: Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33598806$$D View this record in MEDLINE/PubMed |
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| Issue | 3 |
| Keywords | autoinflammatory disorders primary immunodeficiencies Inborn errors of immunity immune dysregulation |
| Language | English |
| License | 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/. |
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| OpenAccessLink | https://link.springer.com/10.1007/s10875-021-00980-1 |
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| PublicationSubtitle | International Journal of Inborn Errors of Immunity and Related Diseases |
| PublicationTitle | Journal of clinical immunology |
| PublicationTitleAbbrev | J Clin Immunol |
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| PublicationYear | 2021 |
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| SubjectTerms | Alleles Biomedical and Life Sciences Biomedicine COVID-19 - complications COVID-19 - epidemiology COVID-19 - virology Diagnosis, Differential Disease Management Genetic Association Studies - methods Genetic diversity Genetic Predisposition to Disease Genotype Humans Immunity Immunity - genetics Immunology Infectious Diseases Inheritance Patterns Internal Medicine Medical Microbiology Original Original Article Phenotype Primary immunodeficiencies Primary Immunodeficiency Diseases - diagnosis Primary Immunodeficiency Diseases - epidemiology Primary Immunodeficiency Diseases - genetics Public Health Surveillance Risk Factors |
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| Title | The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee |
| URI | https://link.springer.com/article/10.1007/s10875-021-00980-1 https://www.ncbi.nlm.nih.gov/pubmed/33598806 https://www.proquest.com/docview/2494707929 https://www.proquest.com/docview/2491071662 https://pubmed.ncbi.nlm.nih.gov/PMC7889474 |
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