Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

Antzeko izenburuak

• Identification of a novel monogenic autoinflammatory disease due to mutation in a mitochondrial chaperone protein in a single kindred, and cure with allogeneic haematopoietic stem cell transplantation
  nork: Standing, Ariane, et al.
  Argitaratua: (2014)
• TRAP1 chaperone protein mutations and autoinflammation
  nork: Standing, Ariane SI, et al.
  Argitaratua: (2019)
• Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation
  nork: Standing, A, et al.
  Argitaratua: (2015)
• Efficacy and safety of anakinra for undifferentiated autoinflammatory diseases in children: a retrospective case review
  nork: Garg, Suchika, et al.
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• Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients
  nork: Rowczenio, D, et al.
  Argitaratua: (2015)