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Recent advances in pediatric rheumatology: July to September 2017

The deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder caused by defect in CECR1 (Cat Eye Syndrome Chromosome Region 1) gene. Carosi et al. carried out a multicentric study to analyze prevalence of CECR1 mutations in children with early-onset polyarteritis nodosa (PAN) or inflammatory disease manifesting as livedo reticularis with or without strokes. The authors assayed adenosine deaminase 2 enzymatic activity and carried out Sanger sequencing for CECR1 gene analysis. It was found that CECR1 mutations (homozygous/compound heterozygous) were present in 15 out of 48 patients with DADA2 phenotype. Mean age of onset was earlier (24 months) in mutation-positive patients compared to CECR1-negative patients. CECR1-positive patients also had more prevalence of neurological and skin manifestations compared to mutation-negative patients. This study provides a completely new perspective to early childhood-onset PAN and related disorders.