Hyper IgM Syndrome Due To AID Deficiency In Two Patients From The Dominican Republic

Abstract

Hyper IgM (HIGM) syndrome is a primary immunodeficiency characterized by a defect in immunoglobulin switch recombination that produces normal or high concentrations of IgM with low or absent IgG, IgA and IgE. The inheritance of this defect can be X-linked or recessive. Activation-Induced Cytidine Deaminase deficiency (AID) is an autosomal recessive form of HIGM, that has been described in patients from Europe, Africa, Asia and North America.