JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.


Baris S. , Karakoc-Aydiner E. , Ozen A. O. , Delil K., Kiykim A., Ogulur I. , ...More

Journal of clinical immunology, vol.35, no.4, pp.339-43, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.1007/s10875-015-0156-2
  • Title of Journal : Journal of clinical immunology
  • Page Numbers: pp.339-43
  • Keywords: Clinical features, severe congenital neutropenia, JAGN1, MUTATIONS, ELA2

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.