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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Front Pediatr
Κύριοι συγγραφείς: Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Frontiers Media S.A. 2017
Θέματα:
Pediatrics
Διαθέσιμο Online: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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