Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.

Record Number: 
MINE001
Citation: 

Minegishi, Yoshiyuki; Aubert Lavoie, Charlotte Cunningham-Rundles, et al. “Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.” Clinical Immunology 97.3 (December 2000): 203-210.

Annotation: 

Brief mention. The article focuses on “hyper IgM syndrome . . . a heterogeneous group of disorders characterized by normal or elevated serum IgM but low serum IgG, IgA, and IgE” (p. 203). The authors were interested in recent research showing that “mutations in a newly described RNA editing enzyme, activation-induced cytidine deaminase (AID), can cause an autosomal recessive form of hyper IgM syndrome” (p. 203). They tested a group of 27 patients with hyper IgM syndrome. They discovered three different mutations in AID among the patients, two of whom were Lumbee. They chose to test the two Lumbee patients because the Lumbee are known to have an increased incidence of hyper IgM syndrome (p. 204).

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