A Long-Term Survivor with the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
- 27 September 2001
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 345 (13) , 999-1000
- https://doi.org/10.1056/nejm200109273451314
Abstract
In their report of bone marrow transplantation in a case of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), Baud et al. (June 7 issue)1 incorrectly stated that our patient (described in our 1995 report2) had died. On the contrary, he survived, is now 11 years old, and continues to receive treatment with betamethasone and tacrolimus.2 The diagnosis of IPEX has been confirmed by sequence analysis of the FOXP3 gene. He has various complications, including renal tubular damage, severe osteoporosis with multiple compression fractures of vertebrae, short stature, hypotonicity, and cataracts, which are probably the result of the disease, the prolonged treatment, or both.Keywords
This publication has 2 references indexed in Scilit:
- Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow TransplantationNew England Journal of Medicine, 2001
- Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathyEuropean Journal of Pediatrics, 1995