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.
Kose, H., Karali, Y. & Kilic, S. Sebnem. (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. Iranian Journal of Immunology, 22(2), 165–171. https://doi.org/10.22034/iji.2025.104102.2882
MLA
Kose, H., Karali, Y., & Kilic, S. Sebnem. "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", Iranian Journal of Immunology, 22, 2, 2025, 165–171. doi: 10.22034/iji.2025.104102.2882
HARVARD
Kose, H., Karali, Y., & Kilic, S. Sebnem. (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', Iranian Journal of Immunology, 22(2), pp. 165–171. doi: 10.22034/iji.2025.104102.2882
CHICAGO
Kose, H., Karali, Y. & Kilic, S. Sebnem, "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." Iranian Journal of Immunology, 22 2 (2025): 165–171, doi: 10.22034/iji.2025.104102.2882
VANCOUVER
Kose H., Karali Y., Kilic S. Sebnem. 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. Iran.J.Immunol. 2025;22(2):165–171. doi: 10.22034/iji.2025.104102.2882
