Family history of autoimmune disease in patients with Aicardi-Goutières syndrome (Q36430164)

14 August 2017

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome (English)

1 reference

14 August 2017

1 reference

Heather Gordish-Dressman

Heather Gordish-Dressman

5

0 references

Adeline Vanderver

Adeline Vanderver

7

0 references

Elisa Fazzi

Elisa Fazzi

4

0 references

Simona Orcesi

Simona Orcesi

6

1 reference

ORCID Public Data File 2021

author name string

Johanna L Schmidt

1

1 reference

14 August 2017

Ivana Olivieri

2

1 reference

14 August 2017

Jodie M Vento

3

1 reference

14 August 2017

11 November 2012

1 reference

Clinical and Developmental Immunology

14 August 2017

1 reference

14 August 2017

2012

1 reference

14 August 2017

206730

1 reference

Creative Commons Attribution 3.0 Unported

14 August 2017

start time

1 January 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

1 reference

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Familial aggregation of autoimmune disease in juvenile dermatomyositis

30 September 2017

1 reference

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Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Trex1 prevents cell-intrinsic initiation of autoimmunity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

High serum IFN-alpha activity is a heritable risk factor for systemic lupus erythematosus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

The role of T cells in psoriasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Familial systemic lupus erythematosus and congenital infection-like syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Epidemiology and estimated population burden of selected autoimmune diseases in the United States

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy.

28 June 2018

1 reference

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Kawasaki disease and juvenile systemic lupus erythematosus.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutières syndrome.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Systemic Lupus Erythematosus or Aicardi-Goutières Syndrome?

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508752

Elevated pterins in cerebral spinal fluid- biochemical marker of Aicardi-Goutières syndrome

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2012%2F206730

Type I interferonopathies: a novel set of inborn errors of immunity

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2012%2F206730

21 January 2018

Identifiers

DOI

10.1155/2012/206730

1 reference

release_jorrfqrxtrajpd3erbnmv35f2m

14 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jorrfqrxtrajpd3erbnmv35f2m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

14 August 2017

1 reference