Normal Expression of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) in LPS-responsive and beige-like anchor protein (LRBA) Patient

Document Type: Case Report

Author

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran

10.22034/igj.2020.245520.1046

Abstract

Bialelic LRBA mutations leads to an Immune dysregulation disorder which name is LRBA deficiency. A wide spectrum of clinical manifestation associated with recurrent infections, enteropathy, hypogammaglobulinemia, and autoimmune manifestations. LRBA interacts with CTLA-4 within recycling it to the T-cell surface. Accordingly, LRBA deficiency abolish CTLA4 protein expression. In this study, we present a case with homozygous mutation in LRBA gene and normal level of CTLA4 protein. This patient revelaed low immunoglobulin levels, CD4+ cells, and CD19+ cells.

Keywords