Human Inborn Errors of Immunity : 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
| Autor: | Stuart G. Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R. J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts |
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| Přispěvatelé: | Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine, Infektiosairauksien yksikkö, HUS Inflammation Center |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Research Report
Primary immunodeficiencies IUIS Committee update Inflammatory and immune system Immunology Immunologic Deficiency Syndromes Inborn errors of immunity Immune dysregulation Phenotype Good Health and Well Being Immune System Diseases immune dysregulation 3121 General medicine internal medicine and other clinical medicine Genetics Humans 2.1 Biological and endogenous factors Immunology and Allergy autoinflammatory disorders Aetiology primary immunodeficiencies |
| Zdroj: | Journal of clinical immunology, vol 42, iss 7 |
| Popis: | We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 phenocopy due to autoantibodies, that have either been discovered since the previous update (published January 2020) or were characterized earlier but have since been confirmed or expanded in subsequent studies. While variants in additional genes associated with immune diseases have been reported in the literature, this update includes only those that the committee assessed that reached the necessary threshold to represent novel inborn errors of immunity. There are now a total of 485 inborn errors of immunity. These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of molecular, cellular, and immunological mechanisms of disease pathogenesis, thereby simultaneously enhancing immunological knowledge and improving patient diagnosis and management. This report is designed to serve as a resource for immunologists and geneticists pursuing the molecular diagnosis of individuals with heritable immunological disorders and for the scientific dissection of cellular and molecular mechanisms underlying monogenic and related human immune diseases. ispartof: JOURNAL OF CLINICAL IMMUNOLOGY vol:42 issue:7 pages:1473-1507 ispartof: location:Netherlands status: published |
| Databáze: | OpenAIRE |
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