HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia)

Clin Immunol. 2006 Jan;118(1):59-65. doi: 10.1016/j.clim.2005.09.006. Epub 2005 Oct 27.

Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte apoptosis characterized by non-malignant lymphadenopathy and splenomegaly, expansion of T cells without either CD4 or CD8 surface markers, and increased incidence of autoimmune diseases and lymphoma. Most patients with ALPS have dominant, heterozygous mutations in tumor necrosis factor receptor superfamily member 6 (TNFRSF6), which encodes CD95, also known as Fas, a mediator of apoptosis. Penetrance and range of disease manifestations in ALPS are highly variable, even among family members who share the same dominant TNFRSF6 mutation. To evaluate HLA as a candidate modifier locus, we typed HLA A, B (including subtypes), and DQB alleles in 356 individuals from 63 unrelated families with defined TNFRSF6 mutations associated with ALPS. We also developed a quantitative severity score and performed statistical analysis. Among the healthier, mutation-bearing individuals, transmission of HLA B44 was significantly overrepresented (nominal P<0.0074) as compared to transmission in patients with severe clinical features of ALPS. The B44 allele may exert a protective role in ALPS.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Alleles
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Data Interpretation, Statistical
  • Gene Frequency
  • HLA-B Antigens / genetics*
  • HLA-B Antigens / immunology
  • HLA-B Antigens / physiology*
  • HLA-B44 Antigen
  • HLA-DQ Antigens / genetics
  • HLA-DQ beta-Chains
  • Histocompatibility Testing
  • Humans
  • Lymphoproliferative Disorders / genetics*
  • Lymphoproliferative Disorders / immunology*
  • Mutation
  • Receptors, Tumor Necrosis Factor / genetics
  • Severity of Illness Index*
  • Syndrome
  • fas Receptor / genetics*
  • fas Receptor / metabolism

Substances

  • FAS protein, human
  • HLA-B Antigens
  • HLA-B44 Antigen
  • HLA-DQ Antigens
  • HLA-DQ beta-Chains
  • HLA-DQB1 antigen
  • HLA-Dx antigen
  • Receptors, Tumor Necrosis Factor
  • fas Receptor