The IPEX syndrome is the X-linked immunodysregulation syndrome, with poliendocrynopathy, and enteropathy caused by the FOXP3 mutation. Clinical hallmarks are enteropathy, endocrinopathy and dermatitis.
We report the patient with classical IPEX syndrome who developed insulin-dependent diabetes, autoimmune thyroiditis, nephrotic syndrome and coeliac disease. The patient was transplanted with an unrelated 8/10 HLA matched umbilical cord blood (UCBT) after conditioning regimen with treosulfan 36 g/m2, fludarabine 150 mg/m2, thiotepa 10 mg/kg, and Thymoglobulin at a dose of 7.5 mg/kg. Due to rapid and complete rejection of the UCBT, a second transplantation from a 6/10 HLA matched mother was performed.
The second conditioning regimen consisted of busulfan 16 mg/kg, fludarabine 150 mg/m2, cyclophosphamide 1g/m2, Grafalon at a cumulative dose of 30mg/kg, and rituximab at a dose of 375 mg/m2. The donor underwent stem cell apheresis on day -1, and alpha-beta T-cell depletion was performed using the CliniMacs Prodigy. The graft product contained 15.06 x 106 CD34+ cells/kg BW and 4.19 x 105 alpha-beta T-lymphocytes/kg BW. From day +15 to +18, due to acute graft rejection the boy was treated with Thymoglobulin and the full donor chimerism was achieved. Around day +40 after transplantation, the boy developed symptoms of stage 1 skin graft versus host disease and was treated with topical steroids and mycophenolate mofetil. Three years after SCT, the patient remains free from GVHD and immunosuppression.
Haploidentical SCT in IPEX syndrome is feasible and well tolerated, but chimerism monitoring and aggressive graft rejection therapy are warranted due to hyperreactivity of autologous T-lymphocytes.