(Q50774043)

19 March 2018

title

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. (English)

1 reference

19 March 2018

inflammatory bowel diseases

1 reference

1 reference

7

1 reference

19 March 2018

Françoise Le Deist

9

object named as

Françoise Le Deist

1 reference

19 March 2018

Andrée Rasquin

4

object named as

Andrée Rasquin

1 reference

19 March 2018

author name string

Philippe Bégin

1

1 reference

19 March 2018

Natalie Patey

2

1 reference

19 March 2018

Pascal Mueller

3

1 reference

19 March 2018

Alain Sirard

5

1 reference

19 March 2018

Christoph Klein

6

1 reference

19 March 2018

Éric Drouin

8

1 reference

19 March 2018

publication date

20 November 2012

1 reference

19 March 2018

Journal of Clinical Immunology

published in

1 reference

19 March 2018

volume

33

1 reference

19 March 2018

page(s)

520-525

1 reference

19 March 2018

issue

3

1 reference

19 March 2018

https://scigraph.springernature.com/pub.10.1007/s10875-012-9833-6

exact match

0 references

cites work

Genetic insights into congenital neutropenia

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

A syndrome with congenital neutropenia and mutations in G6PC3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Identification and characterisation of a new human glucose-6-phosphatase isoform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Mutations in the G6PC3 gene cause Dursun syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Digenic mutations in severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Transmembrane topology of human glucose 6-phosphate transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Association of glycogen storage disease 1b and Crohn disease: results of a North American survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Retrospective cohort study of 148 patients with polyclonal gammopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

Impaired apoptotic cell clearance in CGD due to altered macrophage programming is reversed by phosphatidylserine-dependent production of IL-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-012-9833-6

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

21 January 2018

1 reference

12 December 2020

Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation

1 reference

12 December 2020

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

1 reference

12 December 2020

IgG4-positive plasma cell infiltration in the diagnosis of autoimmune pancreatitis

1 reference

12 December 2020

A case of syndromic neutropenia and mutation in G6PC3

1 reference

12 December 2020

10.1007/S10875-012-9833-6

Identifiers

DOI

1 reference

19 March 2018

PubMed ID

23180359

1 reference

19 March 2018