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

被引：19

作者：

Baris, S. ^{[1
]}

Karakoc-Aydiner, E. ^{[1
]}

Ozen, A. ^{[1
]}

Delil, K. ^{[2
]}

Kiykim, A. ^{[1
]}

Ogulur, I. ^{[1
]}

Baris, I. ^{[3
]}

Barlan, I. B. ^{[1
]}

机构：

[1] Marmara Univ, Res & Training Hosp, Div Pediat Allergy & Immunol, TR-34890 Istanbul, Turkey

[2] Marmara Univ, Res & Training Hosp, Dept Med Genet, TR-34890 Istanbul, Turkey

[3] Koc Univ, Dept Mol Biol & Genet, Istanbul, Turkey

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2015年 / 35卷 / 04期

关键词：

Clinical features; severe congenital neutropenia; JAGN1; MUTATIONS; ELA2;

D O I：

10.1007/s10875-015-0156-2

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：339 / 343

页数：5

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