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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5326763/
https://ncbi.nlm.nih.gov/pubmed/28289675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00037
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