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

Lignende værker

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