Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
| Autor: | Daniel Hervás, Juan C. de Carlos, María Caimari, Antonio Rosell, Ana Martín-Santiago, Juan A. Hervás, Nuria Matamoros M.D. |
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| Rok vydání: | 2013 |
| Předmět: |
Diarrhea
Male congenital hereditary and neonatal diseases and abnormalities Dermatology Disease Endocrine System Diseases medicine.disease_cause Skin Diseases Exon medicine Humans Enteropathy X chromosome Bone Marrow Transplantation Mutation business.industry Infant Newborn Infant Forkhead Transcription Factors Genetic Diseases X-Linked IPEX syndrome Immune dysregulation medicine.disease Diabetes Mellitus Type 1 Immune System Diseases Child Preschool Pediatrics Perinatology and Child Health Immunology medicine.symptom business |
| Zdroj: | Pediatric Dermatology. 30:e221-e222 |
| ISSN: | 0736-8046 |
| DOI: | 10.1111/pde.12126 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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