TY - JOUR
T1 - Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome
AU - Minegishi, Yoshiyuki
AU - Lavoie, Aubert
AU - Cunningham-Rundles, Charlotte
AU - Bédard, Pierre Michel
AU - Hébert, Jacques
AU - Côté, Louise
AU - Dan, Kazuo
AU - Sedlak, Debra
AU - Buckley, Rebecca H.
AU - Fischer, Alain
AU - Durandy, Anne
AU - Conley, Mary Ellen
N1 - Funding Information:
We appreciate the willingness of the patients and their families to participate in these research studies. We thank Lisa Rapalus and Krista Kaul for technical assistance and Susan Saucier for secretarial assistance. These studies were supported by grants from the National Institute of Health, AI25129, National Cancer Institute Grant P30 CA21765, the Assisi Foundation, March of Dimes FY97-0384, American Lebanese Syrian Associated Charities, and by funds from the Federal Express Chair of Excellence.
PY - 2000
Y1 - 2000
N2 - Recent studies have shown that mutations in a newly described RNA editing enzyme, activation-induced cytidine deaminase (AID), can cause an autoso. mal recessive form of hyper IgM syndrome. To deter. mine 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. (C) 2000 Academic Press.
AB - Recent studies have shown that mutations in a newly described RNA editing enzyme, activation-induced cytidine deaminase (AID), can cause an autoso. mal recessive form of hyper IgM syndrome. To deter. mine 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. (C) 2000 Academic Press.
KW - B cells
KW - Class switch recombination
KW - IgM
KW - Immunodeficiency
KW - Lymphoid hyperplasia
KW - RNA editing
KW - Somatic mutation
UR - https://www.scopus.com/pages/publications/0033669973
U2 - 10.1006/clim.2000.4956
DO - 10.1006/clim.2000.4956
M3 - Article
C2 - 11112359
AN - SCOPUS:0033669973
SN - 1521-6616
VL - 97
SP - 203
EP - 210
JO - Clinical Immunology
JF - Clinical Immunology
IS - 3
ER -