RGD Reference Report - Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. - Rat Genome Database

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

Authors: Minegishi, Y  Lavoie, A  Cunningham-Rundles, C  Bedard, PM  Hebert, J  Cote, L  Dan, K  Sedlak, D  Buckley, RH  Fischer, A  Durandy, A  Conley, ME 
Citation: Minegishi Y, etal., Clin Immunol. 2000 Dec;97(3):203-10.
RGD ID: 11039483
Pubmed: PMID:11112359   (View Abstract at PubMed)
DOI: DOI:10.1006/clim.2000.4956   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hyperimmunoglobulin syndrome onsetIAGP 11039483DNA:missense mutations more ...RGD 
hyperimmunoglobulin syndrome onsetISOAICDA (Homo sapiens)11039483; 11039483DNA:missense mutations more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Aicda  (activation-induced cytidine deaminase)

Genes (Mus musculus)
Aicda  (activation-induced cytidine deaminase)

Genes (Homo sapiens)
AICDA  (activation induced cytidine deaminase)


Additional Information