Publication: JAGN1 deficient severe congenital neutropenia: two cases from the same family
Loading...
Program
KU-Authors
Organization Authors
Co-Authors
Baris S.
Karakoc-Aydiner E.
Ozen A.
Delil K.
Kiykim A.
Ogulur I.
Barlan I.B.
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
Subject
Citation
item.page.haspartof
Source
Journal of Clinical Immunology
item.page.ispartofseries
item.page.edition
DOI
10.1007/s10875-015-0156-2
item.page.datauri
item.page.link
Rights
N/A
Copyrights Note
Rights and licensing
N/A