[From gene to disease; CD40 ligand deficiency as the cause of X-linked hyper-IgM-syndrome].
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.
Groeneweg
M
M
Leids Universitair Medisch Centrum, Willem Alexander Kinder- en Jeugdcentrum, afd. Immunologie, Hematologie, Oncologie, Beenmergtransplantatie en Auto-immuunziekten, Leiden. migroeneweg@planet.nl
Lankester
A C
AC
Bredius
R G M
RG
D015496:CD4-Positive T-Lymphocytes / Q000276:immunology; D023201:CD40 Ligand / Q000235:genetics / Q000378:metabolism*; D041321:Chromosomes, Human, X; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000276:immunology; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics* / Q000276:immunology; D007075:Immunoglobulin M / Q000097:blood*; D013577:Syndrome
D007075:Immunoglobulin M; D023201:CD40 Ligand