Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation

Antzeko izenburuak

• Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1
  nork: Standing, Ariane S.I., et al.
  Argitaratua: (2017)
• Actin cytoskeletal defects in immunodeficiency
  nork: Moulding, Dale A, et al.
  Argitaratua: (2013)
• 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)
• Monogenic polyarteritis nodosa caused by ADA2 Deficiency: the GOSH experience
  nork: Nanthapisal, S, et al.
  Argitaratua: (2015)
• Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred
  nork: Standing, A, et al.
  Argitaratua: (2015)