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  • Title: JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.
    Author: Baris S, Karakoc-Aydiner E, Ozen A, Delil K, Kiykim A, Ogulur I, Baris I, Barlan IB.
    Journal: J Clin Immunol; 2015 May; 35(4):339-43. PubMed ID: 25851723.
    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.
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