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Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X ‐Linked Syndrome
Author(s) -
MartínSantiago Ana,
Hervás Juan A.,
Hervás Daniel,
Rosell Antonio,
Caimari María,
Carlos Juan C.,
Matamoros Nuria
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12126
Subject(s) - immune dysregulation , enteropathy , medicine , immune system , protein losing enteropathy , immunology , value (mathematics) , disease , machine learning , computer science
We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X ‐linked ( IPEX ) syndrome due to a de novo c.1190 G > A (p. R 397 Q ) 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 ( X p11.23‐q13.3).