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

BARIŞ S., Karakoc-Aydiner E., ÖZEN A. O., DELİL K., KIYKIM A., ÖĞÜLÜR İ., ...Daha Fazla

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.35, sa.4, ss.339-343, 2015 (SCI-Expanded, Scopus) 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.339-343
  • Anahtar Kelimeler: Clinical features, severe congenital neutropenia, JAGN1, MUTATIONS, ELA2
  • İstanbul Üniversitesi-Cerrahpaşa 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.