Article
Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase.
The Journal of allergy and clinical immunology - 1 Oct 2003
Kasahara Yukiko, Kaneko Hideo, Fukao Toshiyuki, Terada Tomoyoshi, Asano Tsutomu, Kasahara Kimiko, Kondo Naomi
Abstract excerpt
BACKGROUND: Hyper-IgM immunodeficiency is an immunologic disorder characterized by normal or increased serum IgM levels and reduced serum IgG and IgA levels caused by the disruption of Ig class switching in B cells. The gene encoding activation-induced cytidine deaminase (AID) is responsible for the autosomal recessive form of hyper-IgM syndrome. OBJECTIVE: To investigate the relationship between the AID gene...
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