标题
Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency
作者
关键词
G6PC3, congenital neutropenia, inflammatory bowel disease, lymphopenia, G6PT, thymic naive
出版物
JOURNAL OF CLINICAL IMMUNOLOGY
Volume 33, Issue 3, Pages 520-525
出版商
Springer Nature
发表日期
2012-11-19
DOI
10.1007/s10875-012-9833-6
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction
- (2011) B. Hayee et al. GLYCOBIOLOGY
- A Case of Syndromic Neutropenia and Mutation in G6PC3
- (2011) Simona Gatti et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia
- (2011) Kaan Boztug et al. JOURNAL OF PEDIATRICS
- Mutations in the G6PC3 gene cause Dursun syndrome
- (2010) Siddharth Banka et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis
- (2010) D. H. McDermott et al. BLOOD
- Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome
- (2010) H. S. Jun et al. BLOOD
- Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
- (2010) Siddharth Banka et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Digenic mutations in severe congenital neutropenia
- (2010) M. Germeshausen et al. HAEMATOLOGICA
- Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy
- (2010) Janice Y. Chou et al. Nature Reviews Endocrinology
- A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia
- (2009) J. I. Arostegui et al. BLOOD
- Prevalence of mutations inELANE,GFI1,HAX1,SBDS,WASandG6PC3in patients with severe congenital neutropenia
- (2009) Jun Xia et al. BRITISH JOURNAL OF HAEMATOLOGY
- Genetic Insights into Congenital Neutropenia
- (2009) Christoph Klein et al. CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
- A Syndrome with Congenital Neutropenia and Mutations inG6PC3
- (2009) Kaan Boztug et al. NEW ENGLAND JOURNAL OF MEDICINE
- Impaired apoptotic cell clearance in CGD due to altered macrophage programming is reversed by phosphatidylserine-dependent production of IL-4
- (2008) R. F. Fernandez-Boyanapalli et al. BLOOD
- Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11·2 microdeletion and partial DiGeorge syndrome
- (2008) P. Eberle et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
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