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

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...

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Bibliographic Details
Published in:	Iranian journal of immunology Vol. 22; no. 2; p. 165
Main Authors:	Kose, Hulya, Karali, Yasin, Kilic, Sara Sebnem
Format:	Journal Article
Language:	English
Published:	Iran Shiraz Institute for Cancer Research 23.06.2025
Subjects:	Agammaglobulinemia BLNK protein Liver failure Lymphocytes B Mutation Rickets BLNK Hepatopathy PID Rickets Agammaglobulinemia
ISSN:	1735-1383, 1735-367X, 1735-367X
Online Access:	Get full text
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