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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Vydané v:Iranian journal of immunology Ročník 22; číslo 2; s. 165
Hlavní autori: Kose, Hulya, Karali, Yasin, Kilic, Sara Sebnem
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Iran Shiraz Institute for Cancer Research 23.06.2025
Predmet:
Agammaglobulinemia
BLNK protein
Liver failure
Lymphocytes B
Mutation
Rickets
BLNK
Hepatopathy
PID
Rickets
Agammaglobulinemia
ISSN:1735-1383, 1735-367X, 1735-367X
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Shrnutí: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.
Bibliografia:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
content type line 14
ObjectType-Report-1
ObjectType-Article-1
ObjectType-Feature-2
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ISSN:1735-1383
1735-367X
1735-367X
DOI:10.22034/iji.2025.104102.2882