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-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s10875-015-0156-2
  • Dergi Adı: Journal of clinical immunology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.339-43
  • Anahtar Kelimeler: Clinical features, severe congenital neutropenia, JAGN1, MUTATIONS, ELA2
  • Marmara Üniversitesi Adresli: Evet

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.