normal expression of cytotoxic t-lymphocyte- associated protein4 (ctla4) in a lipopolysaccharide- responsive and beige-like anchor protein (lrba) deficient patient

Biallelic lipopolysaccharide-responsive and beige-like anchor (lrba) mutations could lead to an immune dysregulation disorder, labeled as lrba deficiency. a wide spectrum of clinical manifestation was shown to be associated with recurrent infections, enteropathy, hypogammaglobulinemia, and autoimmune complications. notably, lrba interacts with cytotoxic t-lymphocyte-associated protein 4 (ctla-4) by its recycling to the t-cell surface. accordingly, lrba deficiency abolishes ctla4 protein expression. in this study, we presented a case with a homozygous mutation in the lrba gene as well as a normal level of ctla4 protein. in this regard, the immunologist assays of this patient revealed low immunoglobulin levels, cd4+ helper t cells, and cd19+ b cells.