A novel homozygous mutation in Recombination Activating Gene 2 in two relatives with different clinical phenotypes: Omenn syndrome and Hyper-IgM syndrome

Lignende værker

• Novel Presentation of Omenn Syndrome in Association with Aniridia
  af: Sheehan, William J., et al.
  Udgivet: (2009)
• RAG1 reversion mosaicism in a patient with Omenn syndrome
  af: Crestani, Elena, et al.
  Udgivet: (2014)
• Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome
  af: Rigoni, Rosita, et al.
  Udgivet: (2020)
• Case report: Guillain-Barre syndrome with pneumococcus – A new association in pediatrics
  af: Khatib, Hassan El, et al.
  Udgivet: (2017)
• AIRE deficiency in thymus of 2 patients with Omenn syndrome
  af: Cavadini, Patrizia, et al.
  Udgivet: (2005)