Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2
Autosomal recessive form of hyper-IgM syndrome type 2 (AR-HIGM2) is secondary to
mutations affecting both alleles of AICDA gene encoding activation-induced cytidine
deaminase, characterized by defects of immunoglobulin class switch recombination (CSR)
and somatic hypermutation (SHM) in most of the patients. We herein report the
immunological phenotype of seven patients carrying a single heterozygous R190X mutation
in AICDA. Variable defect in in vivo CSR inherited as an autosomal dominant (AD) trait …
mutations affecting both alleles of AICDA gene encoding activation-induced cytidine
deaminase, characterized by defects of immunoglobulin class switch recombination (CSR)
and somatic hypermutation (SHM) in most of the patients. We herein report the
immunological phenotype of seven patients carrying a single heterozygous R190X mutation
in AICDA. Variable defect in in vivo CSR inherited as an autosomal dominant (AD) trait …