We report five patients with IPEX syndrome and a confirmed mutation in FOXP3 who underwent HSCT between 2003 and 2010 at the Northern Supra-Regional Service for Paediatric Immunodeficiency in the ...
Autoimmune diseases affect a significant segment of the population and are typically thought to be multifactorial in etiology. Autoimmune diseases due to single gene defects are rare, but offer an ...