%0 Journal Article
%T Consanguineous Siblings with a Novel Mutation in Lipopolysaccharide-Responsive Beige-like Anchor protein (LRBA)
%A John F. Thompson
%A Kelly Fradin
%A Rushita Mehta
%A null
%J Journal of Allergy and Clinical Immunology
%D 2017
%R 10.1016/j.jaci.2016.12.009
%X 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.
%U https://www.jacionline.org/article/S0091-6749(16)31527-5/abstract