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References OMIM Gene GeneReviews HGMD HGNC
last update : 7/07/2006
Symbol HIGM1
Location Xq26
Name immunodeficiency with hyper IgM, syndrome 1
Other name(s) immunodeficiency 3
Corresponding gene CD40LG
Other symbol(s) IMD3, IHIS, XHIM
Main clinical features
  • agammaglobulinemia, with increased IgM, resulting in a profound susceptibility to bacterial infections . characterized with a defective Ig class switch recombination, a defect in germinal center formation but normal B cells . associated with rheumatoid arthritis (susceptibility to inflammatory arthritis), X-linked recessive
  • Genetic determination sex linked
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name tumor necrosis factor (ligand) superfamily, member 5