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

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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Main Authors: R. Savova, M. Arshinkova, J. Houghton, M. Konstantinova, M. Gaydarova, E. Georgieva, G. Popova, V. Genova, N. Tomova, A. Anadoliiska, K. Koprivarova
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2014/564926
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