(Q38496590)

3 September 2017

1 reference

title

Type I interferonopathies--an expanding disease spectrum of immunodysregulation (English)

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3 September 2017

1

Min Ae Lee-Kirsch

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3 September 2017

Christine Wolf

2

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3 September 2017

Stefanie Kretschmer

series ordinal

3

1 reference

3 September 2017

Axel Roers

series ordinal

4

1 reference

3 September 2017

publication date

22 May 2015

1 reference

Seminars in Immunopathology

3 September 2017

published in

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3 September 2017

volume

37

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3 September 2017

issue

4

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3 September 2017

page(s)

349-357

1 reference

https://scigraph.springernature.com/pub.10.1007/s00281-015-0500-x

3 September 2017

exact match

0 references

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21 January 2018

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21 January 2018

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A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

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21 January 2018

1 reference

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Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

21 January 2018

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21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

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

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

21 January 2018

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The role of complement in the development of systemic lupus erythematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

A Syndrome of Widened Medullary Cavities of Bone, Aortic Calcification, Abnormal Dentition, and Muscular Weakness (The Singleton—Merten Syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

21 January 2018

1 reference

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Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

The immunoproteasome in antigen processing and other immunological functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00281-015-0500-X

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25998914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SAMHD1 prevents autoimmunity by maintaining genome stability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25998914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25998914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00281-015-0500-X

1 reference

Dimensions Publication ID

3 September 2017

1040196340

0 references

1 reference