(Q36034943)

English

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene. (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Min Ae Lee-Kirsch

5

object named as

Min Ae Lee-Kirsch

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

author name string

Hermann Girschick

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Christine Wolf

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Henner Morbach

3

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Christoph Hertzberg

4

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

publication date

7 September 2015

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Pediatric Rheumatology Online Journal

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

13

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

37

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

https://scigraph.springernature.com/pub.10.1186/s12969-015-0035-7

0 references

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

2 October 2017

Advances in understanding the role of type I interferons in systemic lupus erythematosus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

2 October 2017

Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

2 October 2017

Structure, function, and regulation of tartrate-resistant acid phosphatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4562156

23 September 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS12969-015-0035-7

21 January 2018

Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions

1 reference

https://pubmed.ncbi.nlm.nih.gov/26346816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondyloenchondrodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/26346816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S12969-015-0035-7

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

ResearchGate publication ID

0 references

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