(Q41498603)

1 October 2017

0 references

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation (English)

1 reference

1 October 2017

7

Min Ae Lee-Kirsch

1 reference

1 October 2017

Andrea Skrabl-Baumgartner

1

1 reference

1 October 2017

Barbara Plecko

2

1 reference

1 October 2017

Wolfgang M Schmidt

3

1 reference

1 October 2017

Nadja König

4

1 reference

1 October 2017

Michael Hershfield

5

1 reference

1 October 2017

Ursula Gruber-Sedlmayr

6

1 reference

1 October 2017

22 August 2017

1 reference

Pediatric Rheumatology Online Journal

1 October 2017

1 reference

1 October 2017

15

1 reference

1 October 2017

1

1 reference

1 October 2017

67

1 reference

https://scigraph.springernature.com/pub.10.1186/s12969-017-0193-x

1 October 2017

0 references

cites work

The Type I Interferonopathies.

1 reference

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Monogenic polyarteritis: the lesson of ADA2 deficiency

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Early-onset stroke and vasculopathy associated with mutations in ADA2

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Familial chilblain lupus due to a gain-of-function mutation in STING.

11 June 2018

1 reference

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Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5568374

10.1186/S12969-017-0193-X

19 August 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

1 October 2017

0 references

1 reference

1 October 2017

1 reference