DEFINING A NEW IMMUNE DEFICIENCY SYNDROME; MAN2B2-CDG

J. Verheijen,S. Y. Wong,J. H. Rowe,M. He,L. D. Notarangelo,E. Morava

Journal of Allergy and Clinical Immunology（2019）

引用 20|浏览75

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摘要

We describe the first case of MAN2B2 deficiency in a patient with immune dysregulation, developmental delay, and stroke. Altered mannosylation profile was restored in patient cells upon transduction of wild-type MAN2B2.

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关键词

Immunodeficiency,MAN2B2,congenital disorder of glycosylation

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