{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang Z"],"funding":["Sir Jules Thorn Charitable Trust","Deutsche Forschungsgemeinschaft","Harvard Medical School","National Institute for Health Research (NIHR)","UK National Institute of Health Research Cambridge Biomedical Research Centre","National Institutes of Health","Wellcome Trust","Division of Intramural Research, National Institute of Allergy and Infectious Diseases"],"pagination":["1311-1327"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6547869"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["216(6)"],"pubmed_abstract":["Interleukin-2, which conveys essential signals for immunity, operates through a heterotrimeric receptor. Here we identify human interleukin-2 receptor (IL-2R) β chain (<i>IL2RB</i>) gene defects as a cause of life-threatening immune dysregulation. We report three homozygous mutations in the <i>IL2RB</i> gene of eight individuals from four consanguineous families that cause disease by distinct mechanisms. Nearly all patients presented with autoantibodies, hypergammaglobulinemia, bowel inflammation, dermatological abnormalities, lymphadenopathy, and cytomegalovirus disease. Patient T lymphocytes lacked surface expression of IL-2Rβ and were unable to respond to IL-2 stimulation. By contrast, natural killer cells retained partial IL-2Rβ expression and function. IL-2Rβ loss of function was reca"],"journal":["The Journal of experimental medicine"],"pubmed_title":["Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance."],"pmcid":["PMC6547869"],"funding_grant_id":["101908/Z/13/Z","ACF-2019-01-004","083650/Z/07/Z","207556/Z/17/Z","GO2955/1-1","099966/Z/12/Z","12/JTA"],"pubmed_authors":["McDonald D","Haller W","Rooryck C","Sinclair J","Pennamen P","Al-Mousa H","Acres M","Alajlan H","James JR","Smith KGC","Engelhardt KR","Gothe F","Mata CP","Modis Y","Brothers S","Naudion S","Doffinger R","Notarangelo LD","Lenardo MJ","Yamazaki Y","Hambleton S","Zhang Z","Alazami AM","Zhang Y","Bowen C","Thaventhiran JE","Matthews HF","Pelluard F"],"additional_accession":[]},"is_claimable":false,"name":"Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.","description":"Interleukin-2, which conveys essential signals for immunity, operates through a heterotrimeric receptor. Here we identify human interleukin-2 receptor (IL-2R) β chain (<i>IL2RB</i>) gene defects as a cause of life-threatening immune dysregulation. We report three homozygous mutations in the <i>IL2RB</i> gene of eight individuals from four consanguineous families that cause disease by distinct mechanisms. Nearly all patients presented with autoantibodies, hypergammaglobulinemia, bowel inflammation, dermatological abnormalities, lymphadenopathy, and cytomegalovirus disease. Patient T lymphocytes lacked surface expression of IL-2Rβ and were unable to respond to IL-2 stimulation. By contrast, natural killer cells retained partial IL-2Rβ expression and function. IL-2Rβ loss of function was reca","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Jun","modification":"2026-05-04T05:42:17.979Z","creation":"2025-05-18T13:33:29.954Z"},"accession":"S-EPMC6547869","cross_references":{"pubmed":["31040185"],"doi":["10.1084/jem.20182304"]}}