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JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family
S Baris1, E Karakoc-Aydiner, A Ozen
1Division of Pediatric Allergy and Immunology, Research and Training Hospital, Marmara University, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey, safabaris@hotmail.com.
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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