Publication: JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family
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Date
2015
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Publisher
SPRINGER/PLENUM PUBLISHERS
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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Keywords
Clinical features, severe congenital neutropenia, JAGN1, MUTATIONS, ELA2