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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Front Pediatr
Hauptverfasser: Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2017
Schlagworte:
Pediatrics
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge