Article detail · 2025
A Novel Homozygous CGA > TGA Mutation at Codon 123 (Exon 6) of B-Linker Protein (BLNK) as a Potential Cause of Hepatopathy and Rickets: A Case Report
- Year
- 2025
- Type
- article
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- YÖKSİS YÖKSİS article record
- YÖKSİS venue Iranian Journal of Immunology
- Catalog match (ISSN) Iranian Journal of Immunology
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Abstract
OpenAlex · English
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.
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