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Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3

It is now increasingly recognized that some monogenic autoinflammatory diseases and immunodeficiencies cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of non-consanguineous parents who presented with cutaneous vasculitis, digital ischaemia and hypocomp...

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Detalles Bibliográficos
Autores principales: Omoyinmi, Ebun, Mohamoud, Iman, Gilmour, Kimberly, Brogan, Paul A., Eleftheriou, Despina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221951/
https://www.ncbi.nlm.nih.gov/pubmed/30443255
http://dx.doi.org/10.3389/fimmu.2018.02524