title: Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.
abstract: Recent studies have shown that mutations in a newly described RNA editing enzyme, activation-induced cytidine deaminase (AID), can cause an autosomal recessive form of hyper IgM syndrome. To determine the relative frequency of mutations in AID, we evaluated a group of 27 patients with hyper IgM syndrome who did not have defects in CD40 ligand and 23 patients with common variable immunodeficiency. Three different mutations in AID were identified in 18 patients with hyper IgM syndrome, including 14 French Canadians, 2 Lumbee Indians, and a brother and sister from Okinawa. No mutations were found in the remaining 32 patients. In the group of patients with hyper IgM syndrome, the patients with mutations in AID were older at the age of diagnosis, were more likely to have positive isohemagglutinins, and were less likely to have anemia, neutropenia, or thrombocytopenia. Lymphoid hyperplasia was seen in patients with hyper IgM syndrome and normal AID as well as the patients with hyper IgM syndrome and defects in AID.
authors: Department of Immunology, St. Jude Children's Research Hospital, Memphis, Tennessee 38101-0318, USA.
authors: Y
authors: Y
authors: Minegishi
authors: A
authors: A
authors: Lavoie
authors: C
authors: C
authors: Cunningham-Rundles
authors: P M
authors: PM
authors: Bédard
authors: J
authors: J
authors: Hébert
authors: L
authors: L
authors: Côté
authors: K
authors: K
authors: Dan
authors: D
authors: D
authors: Sedlak
authors: R H
authors: RH
authors: Buckley
authors: A
authors: A
authors: Fischer
authors: A
authors: A
authors: Durandy
authors: M E
authors: ME
authors: Conley
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003564:Cytidine Deaminase / Q000378:metabolism*; D004789:Enzyme Activation / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006942:Hypergammaglobulinemia / Q000201:enzymology / Q000235:genetics*; D007075:Immunoglobulin M / Q000097:blood*; D008297:Male; D017354:Point Mutation
chemical_list: D007075:Immunoglobulin M; D003564:Cytidine Deaminase