Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4 (Q28250884)

2

Britt-Sabina Petersen

0 references

Sebastian Zeissig

1

Sebastian Zeissig

0 references

Stefan Schreiber

10

Stefan Schreiber

0 references

Espen Melum

4

Espen Melum

0 references

Andre Franke

13

Andre Franke

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author name string

Michal Tomczak

3

0 references

Emilie Huc-Claustre

5

0 references

Stephanie K Dougan

6

0 references

Jon K Laerdahl

7

0 references

Björn Stade

8

0 references

Michael Forster

9

0 references

Dascha Weir

11

0 references

Alan M Leichtner

12

0 references

Richard S Blumberg

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

14

0 references

language of work or name

English

0 references

publication date

December 2015

0 references

published in

Gut

0 references

volume

64

0 references

issue

12

0 references

page(s)

1889-97

0 references

cites work

1 reference

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The diagnostic approach to monogenic very early onset inflammatory bowel disease

20 March 2017

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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

20 March 2017

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A map of human genome variation from population-scale sequencing

20 March 2017

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A method and server for predicting damaging missense mutations

20 March 2017

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Primary immunodeficiencies: 2009 update

20 March 2017

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T-cell-expressed proprotein convertase furin is essential for maintenance of peripheral immune tolerance

20 March 2017

1 reference

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Induction of FoxP3 and acquisition of T regulatory activity by stimulated human CD4+CD25– T cells

20 March 2017

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Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease

20 March 2017

1 reference

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Crystal structure of the B7-1/CTLA-4 complex that inhibits human immune responses

20 March 2017

1 reference

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The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor

20 March 2017

1 reference

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The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

20 March 2017

1 reference

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Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4

20 March 2017

1 reference

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SIFT: Predicting amino acid changes that affect protein function

20 March 2017

1 reference

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Interleukin-10-deficient mice develop chronic enterocolitis

7 April 2017

1 reference

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Genetics and pathogenesis of inflammatory bowel disease

7 April 2017

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Inflammatory bowel disease

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Intestinal homeostasis and its breakdown in inflammatory bowel disease

7 April 2017

1 reference

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

7 April 2017

1 reference

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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

7 April 2017

1 reference

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Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4

7 April 2017

1 reference

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GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files

7 April 2017

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Protective mucosal immunity mediated by epithelial CD1d and IL-10.

29 September 2017

1 reference

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IL10 single nucleotide polymorphisms are related to upregulation of constitutive IL-10 production and susceptibility to Helicobacter pylori infection

29 September 2017

1 reference

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Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

29 September 2017

1 reference

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Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

29 September 2017

1 reference

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IL-10R polymorphisms are associated with very-early-onset ulcerative colitis

29 September 2017

1 reference

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Detecting false-positive signals in exome sequencing

29 September 2017

1 reference

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Cell-autonomous and -non-autonomous roles of CTLA-4 in immune regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Interleukin-10 signaling in regulatory T cells is required for suppression of Th17 cell-mediated inflammation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

XIAP mediates NOD signaling via interaction with RIP2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Regulatory T cell-derived interleukin-10 limits inflammation at environmental interfaces

29 September 2017

1 reference

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Enterocolitis in patients with cancer after antibody blockade of cytotoxic T-lymphocyte-associated antigen 4

29 September 2017

1 reference

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Allelic variation in gene expression is common in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Immunologic self-tolerance maintained by CD25(+)CD4(+) regulatory T cells constitutively expressing cytotoxic T lymphocyte-associated antigen 4.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Thymocyte development is normal in CTLA-4-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

XIAP variants in male Crohn's disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

CTLA-4 polymorphisms and susceptibility to inflammatory bowel disease: a meta-analysis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Abatacept for Crohn's disease and ulcerative colitis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

CTLA4 -1661A/G and 3'UTR long repeat polymorphisms are associated with ulcerative colitis and influence CTLA4 mRNA and protein expression

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

CD25(+)CD4(+) regulatory T cells exert in vitro suppressive activity independent of CTLA-4

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Distinct roles of CTLA-4 and TGF-beta in CD4+CD25+ regulatory T cell function

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

A polymorphism in the human cytotoxic T-lymphocyte antigen 4 ( CTLA4) gene (exon 1 +49) alters T-cell activation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512923

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25367873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Infant colitis—it's in the genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25367873