Autosomal Dominant Immune Dysfunction in Five Family Members with Truncating Variant in the Activation Induced Cytidine Deaminase (AICDA) Gene

Abstract

Activation induced cytidine deaminase (AICDA) is an DNA editing enzyme specifically expressed in germinal center-like B-cells that is involved in somatic hypermutation and class-switch recombination. Bi-allelic defects in AICDA are a recognized cause of autosomal recessive hyper-IgM syndrome. However, truncating variants in AICDA have been rarely described as an autosomal dominant cause of hyper-IgM syndrome.