Published in:
01-11-2007 | Short Report
Medium-term survival without haematopoietic stem cell transplantation in a case of IPEX: insights into nutritional and immunosuppressive therapy
Authors:
Andrea Taddio, Elena Faleschini, Erica Valencic, Marilena Granzotto, Alberto Tommasini, Loredana Lepore, Marino Andolina, Egidio Barbi, Alessandro Ventura
Published in:
European Journal of Pediatrics
|
Issue 11/2007
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Excerpt
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX; OMIM 304930) is a severe disorder of immune development characterised by a usually fatal course in early childhood [
6]. It is due to mutations in the FOXP3 gene (locus Xp11.23-q13.3) [
2,
4,
9], leading to failure in immune tolerance. …