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HGMD

HGNC

GENATLAS PHENOTYPE

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