Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B-and T-cell homeostasis and reduced immune repertoire diversity
GJ Driessen, H IJspeert, CMR Weemaes… - Journal of allergy and …, 2013 - Elsevier
BACKGROUND: Ataxia telangiectasia (AT) is a multisystem DNA-repair disorder caused by
mutations in the ataxia telangiectasia mutated (ATM) gene. Patients with AT have reduced B-
and T-cell numbers and a highly variable immunodeficiency. ATM is important for V (D) J
recombination and immunoglobulin class-switch recombination (CSR); however, little is
known about the mechanisms resulting in antibody deficiency severity. OBJECTIVE: We
sought to examine the immunologic mechanisms responsible for antibody deficiency …
mutations in the ataxia telangiectasia mutated (ATM) gene. Patients with AT have reduced B-
and T-cell numbers and a highly variable immunodeficiency. ATM is important for V (D) J
recombination and immunoglobulin class-switch recombination (CSR); however, little is
known about the mechanisms resulting in antibody deficiency severity. OBJECTIVE: We
sought to examine the immunologic mechanisms responsible for antibody deficiency …