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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Détails bibliographiques
Publié dans:Front Pediatr
Auteurs principaux: Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2017
Sujets:
Pediatrics
Accès en ligne: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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