Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA - Charbonnier, Louis-Marie; Janssen, Erin; Chou, Janet; Ohsumi, Toshiro K.; Keles, Sevgi; Hsu, Joyce T.; Massaad, Michel J.; Garcia-Lloret, Maria; Hanna-Wakim, Rima; Dbaibo, Ghassan; Alangari, Abdullah A.; Alsultan, Abdulrahman; et al. (Journal of allergy and clinical immunology, 2015)
Keywords: Adaptor Proteins, Signal Transducing - deficiency; Adaptor Proteins, Signal Transducing - genetics; Adolescent; Allergy and Immunology; Autoantibodies; Autoantibodies - immunology; autoimmunity; Child, Preschool; Diabetes Mellitus, Type 1 - congenital; Diarrhea; enteropathy; Female; forkhead box P3; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - immunology; Humans; immune dysregulation; Immune System Diseases - congenital; Interleukin-10 - immunology; LPS-responsive beige-like anchor; Male; mammalian target of rapamycin complex; Mutation; polyendocrinopathy; regulatory T cells; T follicular helper cells; T follicular regulatory cells; T-Lymphocytes, Regulatory - immunology; X-linked syndrome; CD40L; BEACH; WES; polyendocrinopathy; iTreg; Tconv; SLE; CVID; LPS-responsive beige-like anchor; enteropathy; TFH; X-linked syndrome; mammalian target of rapamycin complex; CTLA-4; ICOS; forkhead box P3; TFR; Autoantibodies; LRBA; Treg; IVIG; T follicular helper cells; FOXP3; immune dysregulation; regulatory T cells; CT; autoimmunity; BCL6; Teff; IPEX; 4E-BP1; PD-1; mTORC; T follicular regulatory cells; Follicular regulatory T; Common variable immunodeficiency; Programmed death 1; Systemic lupus erythematosus; Computed tomography; Regulatory T; Induced regulatory T; Beige and Chediak-Higashi syndrome; Inducible costimulator; Conventional T; T FH; Effector T; T FR; Follicular helper T; Cytotoxic T lymphocyte–associated antigen 4; B-cell lymphoma 6; 4E binding protein 1; Whole-exome sequencing; Intravenous immunoglobulin; Immune dysregulation, polyendocrinopathy, enteropathy, X-linked; CD40 ligand