Mutations in CECR1 associated with a neutrophil signature in peripheral blood

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 cu...

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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4181355/
https://ncbi.nlm.nih.gov/pubmed/25278816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1546-0096-12-44
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