Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient. (Q47849667)

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6 March 2020

title

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient (English)

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6 March 2020

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3

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6 March 2020

Carla Uggetti

5

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6 March 2020

Umberto Balottin

11

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6 March 2020

Elisa Fazzi

10

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6 March 2020

Simona Orcesi

12

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6 March 2020

8

A Tincani

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6 March 2020

author name string

I Olivieri

1

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6 March 2020

M Cattalini

2

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6 March 2020

R La Piana

4

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J Galli

6

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A Meini

7

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D Moratto

9

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publication date

5 August 2013

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6 March 2020

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6 March 2020

volume

22

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issue

10

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6 March 2020

page(s)

1064-1069

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Aicardi-Goutieres syndrome.

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0961203313498800

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

21 January 2018

1 reference

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0961203313498800

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

21 January 2018

1 reference

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Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

21 January 2018

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Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome

21 January 2018

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Familial systemic lupus erythematosus and congenital infection-like syndrome

21 January 2018

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Systemic Lupus Erythematosus or Aicardi-Goutières Syndrome?

21 January 2018

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Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters.

21 January 2018

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

21 January 2018

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Aicardi-Goutières syndrome with systemic lupus erythematosus and hypothyroidism

21 January 2018

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Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus

21 January 2018

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Clinical and molecular phenotype of Aicardi-Goutieres syndrome

21 January 2018

1 reference

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Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

21 January 2018

1 reference

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Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

21 January 2018

1 reference

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Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

21 January 2018

1 reference

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Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1177/0961203313498800

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918923%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

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