Immune deficiency disorders with autoimmunity and abnormalities in immune regulation-monogenic autoimmune diseases.
Autoimmunity is frequently observed in patients with primary immune deficiency disorders. Monogenic autoimmune diseases include a group of disorders with characteristic autoimmunity and immune deficiency for which single gene defects have been identified. Currently recognized monogenic autoimmune diseases include autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, immunodysregulation polyendocrinopathy enteropathy and X-linked inheritance syndrome, autoimmune lymphoproliferative syndrome, and interleukin-2 receptor alpha-chain deficiency. These diseases offer important insights into the mechanisms of central and peripheral immune tolerance and the pathogenesis of defects in these mechanisms.
Lehman
Heather K
HK
Division of Allergy/Immunology, Department of Pediatrics, Women and Children's Hospital of Buffalo, University at Buffalo School of Medicine and Biomedical Sciences, 219 Bryant Street, Buffalo, NY 14222, USA. hkm@buffalo.edu
Ballow
Mark
M
D017209:Apoptosis; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D015551:Autoimmunity; D006801:Humans; D007108:Immune Tolerance; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D053645:Interleukin-2 Receptor alpha Subunit / Q000172:deficiency* / Q000276:immunology; D050378:T-Lymphocytes, Regulatory / Q000276:immunology / Q000378:metabolism
D053645:Interleukin-2 Receptor alpha Subunit