Consanguineous Siblings with a Novel Mutation in Lipopolysaccharide-Responsive Beige-like Anchor protein (LRBA)

LRBA deficiency is a primary immunodeficiency caused by absence or dysfunction of a protein involved in endosomal trafficking and CTLA-4 expression. LRBA deficiency can result in a variety of phenotypes, including hypogammaglobulinemia, autoimmunity, recurrent infections, and enteropathy. We present siblings with predominantly autoimmunity, minimal immunodeficiency, and a novel mutation in LRBA.