The genetics of autoimmune polyendocrine syndrome type II

Endocrinol Metab Clin North Am. 2002 Jun;31(2):353-68, vi-vii. doi: 10.1016/s0889-8529(01)00015-9.

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).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abatacept
  • Addison Disease
  • Antigens, CD
  • Antigens, Differentiation / genetics
  • CTLA-4 Antigen
  • HLA Antigens / genetics
  • Haplotypes
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Immunoconjugates*
  • Mutation
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polymorphism, Genetic

Substances

  • Antigens, CD
  • Antigens, Differentiation
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • HLA Antigens
  • Histocompatibility Antigens Class I
  • Immunoconjugates
  • MHC class I-related chain A
  • Abatacept