Correspondence
A Long-Term Survivor with the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
N Engl J Med 2001; 345:999-1000September 27, 2001
- Article
To the Editor:
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.
2 ReferencesIchiro Kobayashi, M.D., Ph.D.
Nobuaki Kawamura, M.D., Ph.D.
Motohiko Okano, M.D., Ph.D.
Hokkaido University School of Medicine, Sapporo 060-8638, Japan
ichikoba@med.hokudai. ac. jp 1
Baud O ,Goulet O ,Canioni D , et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogenic bone marrow transplantation. N Engl J Med 2001;344:1758-1762
Full Text | Web of Science | Medline2
Kobayashi I ,Nakanishi M ,Okano M ,Sakiyama Y ,Matsumoto S . Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathy. Eur J Pediatr 1995;154:594-595
CrossRef | Web of Science | Medline
- Citing Articles (9)
Citing Articles
1
Ichiro Kobayashi, Mitsuru Kubota, Masafumi Yamada, Hiroshi Tanaka, Shuichi Itoh, Yoji Sasahara, Luke Whitesell, Tadashi Ariga. (2011) Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3. Clinical Immunology 141:1, 83-89
CrossRef2
Ilenia Drigo, Elisa Piscianz, Erica Valencic, Sara De Iudicibus, Alberto Tommasini, Alessandro Ventura, Giuliana Decorti. (2010) Selective resistance to different glucocorticoids in severe autoimmune disorders. Clinical Immunology 134:3, 313-319
CrossRef3
Frank M Ruemmele, Nicolette Moes, Natacha Patey-Mariaud de Serre, Frédéric Rieux-Laucat, Olivier Goulet. (2008) Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. Current Opinion in Gastroenterology 24:6, 742-748
CrossRef4
Andrea Taddio, Elena Faleschini, Erica Valencic, Marilena Granzotto, Alberto Tommasini, Loredana Lepore, Marino Andolina, Egidio Barbi, Alessandro Ventura. (2007) Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapy. European Journal of Pediatrics 166:11, 1195-1197
CrossRef5
Hans J. J. van der Vliet, Edward E. Nieuwenhuis. (2007) IPEX as a Result of Mutations in FOXP3. Clinical and Developmental Immunology 2007, 1-5
CrossRef6
Hiroshi Tanaka, Koji Tsugawa, Masanobu Kudo, Kazuhiko Sugimoto, Ichiro Kobayashi, Etsuro Ito. (2005) Low-dose cyclosporine A in a patient with X-linked immune dysregulation, polyendocrinopathy and enteropathy. European Journal of Pediatrics 164:12, 779-780
CrossRef7
Frank M. Ruemmele, Nicole Brousse, Olivier Goulet. (2004) Autoimmune enteropathy: molecular concepts. Current Opinion in Gastroenterology 20:6, 587-591
CrossRef8
Eleonora Gambineri, Troy R. Torgerson, Hans D. Ochs. (2003) Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Current Opinion in Rheumatology 15:4, 430-435
CrossRef9
Troy R. Torgerson, Hans D. Ochs. (2002) Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation. Current Opinion in Allergy and Clinical Immunology 2:6, 481-487
CrossRef
