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

@article{Bari2015JAGN1DS,
  title={JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family},
  author={Safa Bariş and E. Karakoc–Aydiner and Ahmet Oğuzhan Ozen and Kenan Delil and Ayca Kiykim and Ismail Ogulur and Ibrahim Baris and Isil Berat Barlan},
  journal={Journal of Clinical Immunology},
  year={2015},
  volume={35},
  pages={339-343}
}
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… CONTINUE READING