Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

BACKGROUND: Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. OBJECTIVE: To define a genetic syndrome of severe atopy, elevated serum IgE, immune deficiency, autoimmunity, and motor and neurocognitive impairment...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Zhang, Yu, Yu, Xiaomin, Ichikawa, Mie, Lyons, Jonathan J., Datta, Shrimati, Lamborn, Ian T., Jing, Huie, Kim, Emily S., Biancalana, Matthew, Wolfe, Lynne A., DiMaggio, Thomas, Matthews, Helen F., Kranick, Sarah M., Stone, Kelly D., Holland, Steven M., Reich, Daniel S., Hughes, Jason D., Mehmet, Huseyin, McElwee, Joshua, Freeman, Alexandra F., Freeze, Hudson H., Su, Helen C., Milner, Joshua D.
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4016982/
https://ncbi.nlm.nih.gov/pubmed/24589341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2014.02.013
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires