Involvement of the IFN-gamma pathway in a patient with candle syndrome carrying a novel variant of PSMB8 gene

Eitemau Tebyg

• P02-016 - A novel PSMB8 mutation causing candle syndrome
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  Cyhoeddwyd: (2013)
• PReS-FINAL-2202: A novel PSMB8 mutation associated with CANDLE syndrome
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  Cyhoeddwyd: (2013)
• Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants
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  Cyhoeddwyd: (2014)
• An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
  gan: Arduini, Alessia, et al.
  Cyhoeddwyd: (2019)
• The interferon-gamma pathway is selectively up-regulated in the liver of patients with secondary hemophagocytic lymphohistiocytosis
  gan: Prencipe, Giusi, et al.
  Cyhoeddwyd: (2019)