Normal Expression of Cytotoxic T-lymphocyte- As-sociated Protein4 (CTLA4) in a Lipopolysaccharide-Responsive and Beige-like Anchor Protein (LRBA) Deficient Patient
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.
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