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An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome.

Alessia ArduiniEmiliano MarascoGiulia MarucciManuela PardeoAntonella InsalacoIvan CaielloGian Marco MonetaGiusi PrencipeFabrizio De BenedettiClaudia Bracaglia
Published in: Pediatric rheumatology online journal (2019)
The reported case underlines the potential difficulties in discriminating sJIA from other causes of systemic inflammation. Furthermore, this supports the notion that especially in young children with a sJIA-like disease other mimicking conditions should be actively sought for. CXCL9 and IL-18 levels suggested that patients with PNP-deficiency may have a subclinical activation of the IFNγ pathway and indeed they are predisposed to develop sHLH.
Keyphrases
  • juvenile idiopathic arthritis
  • disease activity
  • replacement therapy
  • adipose tissue
  • dendritic cells
  • systemic lupus erythematosus
  • risk assessment