Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy

Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case. A boy aged 2.3 years was born from first normal pregnancy with a weight of 3420 gr. Family History. Two brothers of the mother died before the age of 3 years with severe infections, di...

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Detalles Bibliográficos
Autores principales: Savova, R., Arshinkova, M., Houghton, J., Konstantinova, M., Gaydarova, M., Georgieva, E., Popova, G., Genova, V., Tomova, N., Anadoliiska, A., Koprivarova, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058591/
https://www.ncbi.nlm.nih.gov/pubmed/24982679
http://dx.doi.org/10.1155/2014/564926

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