Ontology highlight
ABSTRACT:
SUBMITTER: Belot A
PROVIDER: S-EPMC4181355 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Belot Alexandre A Wassmer Evangeline E Twilt Marinka M Lega Jean-Christophe JC Zeef Leo Ah LA Oojageer Anthony A Kasher Paul R PR Mathieu Anne-Laure AL Malcus Christophe C Demaret Julie J Fabien Nicole N Collardeau-Frachon Sophie S Mechtouff Laura L Derex Laurent L Walzer Thierry T Rice Gillian I GI Durieu Isabelle I Crow Yanick J YJ
Pediatric rheumatology online journal 20140924
<h4>Background</h4>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 de ...[more]