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...

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Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Article
Online toegang: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
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