Monogenic polyarteritis nodosa caused by ADA2 Deficiency: the GOSH experience

S Nanthapisal, C Murphy, E Omoyinmi,A Standing,Y Hong,SM Gomes, N Klein,D Eleftheriou,PA Brogan

Pediatric Rheumatology（2015）

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摘要

Recessive mutations in Cat Eye syndrome Critical Region 1 (CECR1), the gene encoding adenosine deaminase 2 (ADA2) have been recently reported to cause polyarteritis nodosa (PAN) with highly varied clinical expression.

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关键词

Vasculitis, Adenosine Deaminase, Polyarteritis Nodosa, Compound Heterozygous Mutation, Arterial Ischaemic Stroke

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