Protein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer

Abstract

Objective: Lipopolysaccharide-responsive beige-like anchor (LRBA) plays a role in cell surface expression of inhibitory cytotoxic T lymphocyte-associated protein-4 (CTLA-4) protein. Recently identified LRBA deficiency leads to immune deficiency and autoimmunity and is diagnosed by mutation analyses and protein expression. Herein, we quantified stimulated and unstimulated intracellular LRBA protein expression by flow cytometry in LRBA deficiency patients.