[From gene to disease; CD40 ligand deficiency as the cause of X-linked hyper-IgM-syndrome]

Ned Tijdschr Geneeskd. 2003 May 24;147(21):1009-11.
[Article in Dutch]

Abstract

X-linked hyper-IgM syndrome (XHIM) is a rare congenital immunodeficiency disorder, characterised by a defect in both humoral and cellular immune responses. In XHIM, the membrane glycoprotein CD40 ligand (expressed on activated T-cells) is deficient, which compromises T-cell interactions with antigen-presenting cells. Patients with XHIM present with severe, recurrent infections, predominantly of the respiratory and gastrointestinal tract. The gene encoding the CD40 ligand is located on the long arm of the X chromosome.

Publication types

  • Comment
  • English Abstract
  • Review

MeSH terms

  • CD4-Positive T-Lymphocytes / immunology
  • CD40 Ligand / genetics
  • CD40 Ligand / metabolism*
  • Chromosomes, Human, X*
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / immunology
  • Genetic Linkage
  • Humans
  • Hypergammaglobulinemia / genetics*
  • Hypergammaglobulinemia / immunology
  • Immunoglobulin M / blood*
  • Syndrome

Substances

  • Immunoglobulin M
  • CD40 Ligand