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. , ...Daha Fazla

Journal of clinical immunology, cilt.35, sa.4, ss.339-43, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Konu: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s10875-015-0156-2
  • Dergi Adı: Journal of clinical immunology
  • Sayfa Sayıları: ss.339-43

Özet

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.