Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

We describe here the case of a boy who presented with pulmonary infections, feeding difficulties due to velopharyngeal insufficiency and gastroesophageal reflux, myopathy, and hypotonia soon after birth. Later, he was also found to have an elevated immunoglobulin (Ig) E and mild eczema and was diagn...

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Detalles Bibliográficos
Autores principales: Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326763/
https://www.ncbi.nlm.nih.gov/pubmed/28289675
http://dx.doi.org/10.3389/fped.2017.00037

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326763/
https://www.ncbi.nlm.nih.gov/pubmed/28289675
http://dx.doi.org/10.3389/fped.2017.00037

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