Louis-Marie Charbonnier Erin Janssen Janet Chou Toshiro K Ohsumi Sevgi Keles Joyce T Hsu Michel J Massaad Maria Garcia-Lloret Rima Hanna-Wakim Ghassan Dbaibo Abdullah A Alangari Abdulrahman Alsultan Daifulah Al-Zahrani Raif S Geha Talal A Chatila
10.1016/j.jaci.2014.10.019
J Allergy Clin Immunol
2015 Jan;135(1):217-27.
autoantibodies lps-responsive beige-like anchor t follicular helper cells t follicular regulatory cells x-linked syndrome autoimmunity enteropathy forkhead box p3 immune dysregulation mammalian target of rapamycin complex polyendocrinopathy regulatory t cells
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/25468195/
Adaptor Proteins, Signal Transducing / deficiency Adaptor Proteins, Signal Transducing / genetics T-Lymphocytes, Regulatory / immunology
Adaptor Proteins, Signal Transducing / deficiency Adaptor Proteins, Signal Transducing / genetics T-Lymphocytes, Regulatory / immunology Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Autoantibodies / immunology Child, Preschool Diabetes Mellitus, Type 1 / congenital Diarrhea Female Genetic Diseases, X-Linked / genetics Genetic Diseases, X-Linked / immunology Humans Immune System Diseases / congenital Interleukin-10 / immunology Male Mutation Adaptor Proteins, Signal Transducing Autoantibodies Interleukin-10 LRBA protein, human Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
PMC4289093
25468195
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA
2015