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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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آمار تعداد مشاهده مقاله: 399 تعداد دریافت فایل اصل مقاله: 223 |
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