Spectrum of Phenotypes Associated with Mutations in LRBA

Abstract

To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features.

Keywords: Primary immunodeficiency disorders (PID); apoptosis; autoimmune disease (AID); autophagy; chronic diarrhea (CD); common variable immunodeficiency (CVID); cytotoxic T-lymphocyte-associated protein 4 (CTLA4); hypogammaglobulinemia (HGG); lipopolysaccharide responsive beige-like anchor protein (LRBA); organomegaly (OM); regulatory T-cells (Treg).