Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
Article first published online: 28 MAR 2013
© 2013 Wiley Periodicals, Inc.
Volume 30, Issue 6, pages e221–e222, November/December 2013
How to Cite
Martín-Santiago, A., Hervás, J. A., Hervás, D., Rosell, A., Caimari, M., de Carlos, J. C. and Matamoros, N. (2013), Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome. Pediatric Dermatology, 30: e221–e222. doi: 10.1111/pde.12126
- Issue published online: 13 NOV 2013
- Article first published online: 28 MAR 2013
We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and ichthyosiform appearance and had an allogeneic bone marrow transplantation. IPEX syndrome is a rare, often fatal recessive disease caused by mutations in the FOXP3 gene on the X chromosome (Xp11.23-q13.3).