LRBA deficiency in in Mexican patients with common variable immunodeficiency (IRM10P.616)

Abstract

CVID is one of the most common primary immunodeficiency diseases and is a diagnosis of exclusion. CVID is characterized by hypogammaglobulinemia and recurrent bacterial infections. About two third of CVID subjects have an autoimmune condition. The etiology of about 80% of CVID remains unknown. Genetic linkage studies in such families have found distinct homozygous mutations in the gene encoding LRBA. Since then, all 11 LRBA deficient CVID subjects identified to date have autoimmune diseases, all patients, except one presented hypogammaglobulinemia. All mutations reported caused the loss or LRBA expression in PBMCs. In this work, we explore the frequency of LRBA deficiency in a cohort of 40 patients with clinical diagnosis of CVID diagnosis, most of which, consanguinity is unknown. Two patients with LRBA deficiency were identified in this cohort. All of the forty patients showed hypogammaglobulinemia. We also correlate the deficiency of LRBA with Freiburg classification from which patients with mutations in LRBA were from group Ia an Ib.