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The genetics of autoimmune polyendocrine syndrome type II
David T Robles1, Pamela R Fain, Peter A Gottlieb
1Medical Scientist Training Program, Department of Immunology, University of Colorado Health Sciences Center, Box B140, 4200 East 9th Ave., Denver, CO 80262, USA.
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).