Document Type: Case Report
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran
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.