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Kose, Hulya, Karali, Yasin, Kilic, Sara. (1404). 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. سامانه مدیریت نشریات علمی, 22(2), 165-171. doi: 10.22034/iji.2025.104102.2882
Hulya Kose; Yasin Karali; Sara Sebnem Kilic. "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". سامانه مدیریت نشریات علمی, 22, 2, 1404, 165-171. doi: 10.22034/iji.2025.104102.2882
Kose, Hulya, Karali, Yasin, Kilic, Sara. (1404). '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', سامانه مدیریت نشریات علمی, 22(2), pp. 165-171. doi: 10.22034/iji.2025.104102.2882
Kose, Hulya, Karali, Yasin, Kilic, Sara. 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. سامانه مدیریت نشریات علمی, 1404; 22(2): 165-171. doi: 10.22034/iji.2025.104102.2882

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
دوره 22، شماره 2، شهریور 2025، صفحه 165-171    اصل مقاله (724.16 K)
نوع مقاله: Case Report
شناسه دیجیتال (DOI): 10.22034/iji.2025.104102.2882
نویسندگان
Hulya Kose؛ Yasin Karali؛ Sara Sebnem Kilic*
Uludag University Faculty of Medicine, Department of Pediatric Immunology and ‎Rheumatology, Bursa, Turkey.
چکیده
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.
کلیدواژه‌ها
Agammaglobulinemia؛ BLNK؛ Hepatopathy؛ PID؛ Rickets
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