Abstract
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.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
MeSH terms
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Child
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Female
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Glycosylation
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Humans
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Immunologic Deficiency Syndromes / genetics*
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Mannosidase Deficiency Diseases / genetics*
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alpha-Mannosidase / genetics*