Title |
Mutations in CECR1 associated with a neutrophil signature in peripheral blood
|
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Published in |
Pediatric Rheumatology, September 2014
|
DOI | 10.1186/1546-0096-12-44 |
Pubmed ID | |
Authors |
Alexandre Belot, Evangeline Wassmer, Marinka Twilt, Jean-Christophe Lega, Leo AH Zeef, Anthony Oojageer, Paul R Kasher, Anne-Laure Mathieu, Christophe Malcus, Julie Demaret, Nicole Fabien, Sophie Collardeau-Frachon, Laura Mechtouff, Laurent Derex, Thierry Walzer, Gillian I Rice, Isabelle Durieu, Yanick J Crow |
Abstract |
A reduction of ADA2 activity due to autosomal recessive loss of function mutations in CECR1 results in a newly described vasculopathic phenotype reminiscent of polyarteritis nodosa, with manifestations ranging from fatal systemic vasculitis with multiple strokes in children to limited cutaneous disease in middle-aged individuals. Evidence indicates that ADA2 is essential for the endothelial integrity of small vessels. However, CECR1 is not expressed, nor is the ADA2 protein detectable, in cultured human endothelial cells, thus implicating additional cell types or circulating factors in disease pathogenesis. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Denmark | 1 | 1% |
Unknown | 88 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 15 | 17% |
Student > Ph. D. Student | 10 | 11% |
Student > Doctoral Student | 9 | 10% |
Professor > Associate Professor | 7 | 8% |
Student > Master | 7 | 8% |
Other | 19 | 21% |
Unknown | 22 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 35 | 39% |
Biochemistry, Genetics and Molecular Biology | 8 | 9% |
Immunology and Microbiology | 8 | 9% |
Agricultural and Biological Sciences | 5 | 6% |
Nursing and Health Professions | 1 | 1% |
Other | 4 | 4% |
Unknown | 28 | 31% |