Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study

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Excerpt

LPS‐responsive beige‐like anchor protein (LRBA) deficiency is a primary immunodeficiency (PID) caused by biallelic loss‐of‐function mutations in LRBA gene.1 Affected individuals present a variety of clinical symptoms including early‐onset hypogammaglobulinemia, recurrent infections, autoimmunity, and chronic diarrhea.2
Immunologic abnormalities in LRBA‐deficient patients include decreased IgG antibody production, defect in specific antibody response, deficient T‐cell activation and proliferation, increased apoptosis, and decreased autophagy in B lymphocytes. The majority of LRBA‐deficient patients have also low B‐cell subset counts, mainly in switched memory B cells and plasmablasts.1 Therefore, LRBA deficiency is a clinically variable syndrome with a wide spectrum of clinical and immunologic manifestations.5
In this study, our aim was to evaluate the clinical manifestations, laboratory findings and management of 17 Iranian LRBA‐deficient patients and to consider their genotype‐phenotype correlation.
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