Abstract
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.
Highlights
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
Clinical features resembling the recent description of deficiency of ADA2
Mutations in CECR1 were identified in 8 patients
Summary
The aim of this study was to identify the relevance of this mutation in children with PAN at Great Ormond Street Hospital (GOSH)
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