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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Summary: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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ISSN:1735-1383
1735-367X
1735-367X
DOI:10.22034/iji.2025.104102.2882