Publication: JAGN1 deficient severe congenital neutropenia: two cases from the same family
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KU-Authors
KU Authors
Co-Authors
Baris S.
Karakoc-Aydiner E.
Ozen A.
Delil K.
Kiykim A.
Ogulur I.
Barlan I.B.
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Abstract
Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in neutrophil survival. Here, we report two siblings with a homozygous mutation in JAGN1 gene, exhibiting multisystemic involvement.
Source
Publisher
Springer
Subject
Immunology, Medical genetics, Hematology, Pediatrics
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Source
Journal of Clinical Immunology
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DOI
10.1007/s10875-015-0156-2
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