الفهرس 
LRBA/CTLA4 deficiency in children with primary antibody deficiency disorders
Chapter OneOnly 14 pages are availabe for public view
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Abstract
Background and aim of work: In the past few years, many genes and different mechanisms were proved to be implicated in various phenotypes of Common Variable Immune Deficiency Disorder (CVID) and yet more to be elucidated. Studying such patients originating from highly consanguineous populations with high incidence of autosomal recessive genetic defects would probably help to unravel new mechanisms and add new explanations. The aim of the present study was to investigate the role of LRBA/CTLA4 in a cohort of CVID patients with detailed description of their clinical and immunological features. Methods: This study included 26 patients with CVID based on ESID criteria for diagnosis of CVID. Nine patients were diagnosed with LRBA deficiency, Two patients had marked defect in CTLA4 expression following T cell stimulation and the rest of the patients with typical CVID phenotype with normal expression of LRBA and CTLA4 proteins. Flow cytometry was used for evaluation of Tregs, assessment of differentiation of T and B lymphocytes and level of LRBA and CTLA4 protein expression