Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

“…Despite this, published case reports and outcome studies have shown promising results and improvement or complete resolution of disease symptoms in the presence of full or mixed chimerism. [4][5][6] We report a retrospective analysis of 7 patients with IPEX syndrome who underwent SCT at a single institution between 2000 and 2012. Approval was obtained from the institutional review board.…”

Resetting microbiota by Lactobacillus reuteri inhibits T reg deficiency–induced autoimmunity via adenosine A2A receptors

“…To date, treatment with immunosuppressive drugs in combination with supportive care, such as total parental nutrition (TPN) and blood transfusion, may help to palliate clinical manifestations (Hannibal and Torgerson, 2011). Transplantation of donor T reg cells and stem cells is promising, but the procedure is limited by the availability of a suitable donor; and the ultimate outcome can be fatal or associated with chronic health problems (Rao et al, 2007; Seidel et al, 2009; Burroughs et al, 2010; Nademi et al, 2014).…”

Recessively InheritedLRBAMutations Cause Autoimmunity Presenting as Neonatal Diabetes

“…FOXP3 mutations in males cause Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) syndrome (14) which can be treated with a haematopoietic stem cell transplant (HSCT). If performed early HSCT can cure the life threatening enteropathy as well as prevent the onset of autoimmunemediated diabetes (15). In an individual with polyarthritis, scleroderma and autoimmune haemolytic anaemia resulting from an activating STAT3 mutation, treatment with tocilizumab, a monoclonal antibody against IL-6, resulted in marked improvement in their symptoms (16).…”