Publication: JAGN1 Deficient severe congenital neutropenia: two cases from the same family
Program
KU-Authors
KU Authors
Co-Authors
Baris, S.
Karakoc-Aydiner, E.
Ozen, A.
Delil, K.
Kiykim, A.
Ogulur, I.
Barlan, I. B.
Editor & Affiliation
Compiler & Affiliation
Translator
Other Contributor
Date
Language
Type
Embargo Status
N/A
Journal Title
Journal ISSN
Volume Title
Alternative Title
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/Plenum Publishers
Subject
Immunology
Citation
Has Part
Source
Journal of Clinical Immunology
Book Series Title
Edition
DOI
10.1007/s10875-015-0156-2
item.page.datauri
Link
Rights
N/A