Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome

Abstract

The hyper-immunoglobulin M (HIGM) syndrome comprises a group of primary immunodeficiency disorders characterized by normal or elevated serum levels of IgM and low levels of other immunoglobulin classes. Patients with HIGM usually suffer from a variety of recurrent infections. Herein, we report two siblings of a Tajik family with a HIGM phenotype in which a novel missense mutation in the activation-induced cytidine deaminase (AICDA) gene was detected. Mutations in this gene are responsible for an autosomal recessive form of HIGM. We have also reviewed and summarized all published cases with HIGM due to defects in AICDA.