Article
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Pediatric rheumatology online journal - 1 Jan 2014
Belot Alexandre, Wassmer Evangeline, Twilt Marinka, Lega Jean-Christophe, Zeef Leo Ah, Oojageer Anthony, Kasher Paul R, Mathieu Anne-Laure, Malcus Christophe, Demaret Julie, Fabien Nicole, Collardeau-Frachon Sophie, Mechtouff Laura, Derex Laurent, Walzer Thierry, Rice Gillian I, Durieu Isabelle, Crow Yanick J
Abstract excerpt
BACKGROUND: 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...
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