NOVEL HETEROZYGOTE MUTATION OF LRBA ASSOCIATED WITH CVID

Abstract

<h3>Introduction</h3> Common variable immunodeficiency (CVID) is a clinically heterogeneous disorder with a growing list of genetic causes. The LPS Responsive Beige-Like Anchor (LRBA) gene encodes for a protein that is part of the CTLA-4 pathway important in immune regulation. Heterozygote mutations of this gene have been described in the literature in patients with CVID. We present a novel undescribed heterozygote LRBA mutation in the setting of CVID. <h3>Case Description</h3> We present a 69-year-old white male with diagnosed CVID. He was first diagnosed in his teenage years after frequent upper and lower respiratory tract infections. He has received intravenous immunoglobulin therapy since his diagnosis. His comorbidities include asthma, hypertension, hyperlipidemia, sciatica, and Hashimoto Thyroiditis. Recently genetic testing was done through Invitae^TM genomic DNA hybridization-based protocol with Illumina sequencing technology. The results showed a heterozygous LRBA c.6352del(p.11e2118Serfs*46) mutation. <h3>Discussion</h3> LRBA deficiency is seen in many different autoimmune conditions due to its importance in the regulation of immune responses. This heterozygous mutated gene has been seen in the setting of CVID in the literature. We present a novel heterozygous LRBA mutation in the clinical setting of CVID. The relationship between genotyping and the differing CVID phenotypes has not been widely explored. The discovery of this mutation will aid in establishing a more stable relationship between mutations and clinical signs and symptoms of CVID.