title: The genetics of autoimmune polyendocrine syndrome type II.
abstract: A series of autoimmune disorders, often Addison's disease, type 1 diabetes mellitus, and thyroid autoimmunity, frequently occurs together in patients with the autoimmune polyendocrine syndrome type II (APS-II). The highest risk HLA genotype for Addison's disease, either as a single disease or in APS-II patients, consists of the genotype DR3/4, DQ2/DQ8 with DRB1*0404. As many as 30% of patients with Addison's disease have this genotype versus less than 0.5% of controls. An additional and important associated locus within the HLA region is the class I related gene, MIC-A. Patients who develop Addison's disease often have a delayed diagnosis and may die from Addisonian crisis; therefore, improved genetic testing combined with testing for 21-hydroxylase autoantibodies might allow the identification of relatively high-risk populations (greater than 1 in 200 defined genetic risk compared with 1 in 10,000 population risk).
authors.affiliation: Medical Scientist Training Program, Department of Immunology, University of Colorado Health Sciences Center, Box B140, 4200 East 9th Ave., Denver, CO 80262, USA.
authors.forename: David T
authors.initials: DT
authors.lastname: Robles
authors.forename: Pamela R
authors.initials: PR
authors.lastname: Fain
authors.forename: Peter A
authors.initials: PA
authors.lastname: Gottlieb
authors.forename: George S
authors.initials: GS
authors.lastname: Eisenbarth
mesh_terms: D000069594:Abatacept; D000224:Addison Disease; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics; D060908:CTLA-4 Antigen; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D018796:Immunoconjugates; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D006680:HLA Antigens; D015395:Histocompatibility Antigens Class I; D018796:Immunoconjugates; C099187:MHC class I-related chain A; D000069594:Abatacept