Document Type : Case Report

Authors

Uludag University Faculty of Medicine, Department of Pediatric Immunology and ‎Rheumatology, Bursa, Turkey.

Abstract

BLNK deficiency is a subtype of autosomal recessive immune disorders that involves a lack of B cells,  agammaglobulinemia, and recurrent infections. We present the case of a 29-year-old Turkish female with BLNK deficiency caused by a novel homozygous CGA > TGA mutation at codon 123 (exon 6) in the BLNK gene. She developed severe liver failure and rickets at the age of 12. Although BLNK mutations are a rare cause of agammaglobulinemia, it is important to consider them in patients with B-cell deficiency and non-immune involvement.

Keywords