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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados