Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Article ID	Journal	Published Year	Pages	File Type
6063977	Journal of Allergy and Clinical Immunology	2014	15 Pages	PDF

Abstract

Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination.

Keywords

STAT3 UDP GATK PGM3 Hyper-IgE DOCK8 CFSE SNV CDG NIH APC InDel N-acetyl-d-glucosamine GlcNAc GC/MS uridine diphosphate Atopy allophycocyanin Allergy Genome Analysis Toolkit congenital disorder of glycosylation Neurocognitive impairment MRI Magnetic resonance imaging autoimmunity insertion/deletion phycoerythrin National Institutes of Health signal transducer and activator of transcription 3 Dedicator of cytokinesis 8 carboxyfluorescein succinimidyl ester gas chromatography/mass spectrometry immune deficiency Glycosylation single nucleotide variant

Related Topics

Life Sciences Immunology and Microbiology Immunology

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Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Authors

Yu PhD, Xiaomin PhD, Mie BSc, Jonathan J. MD, Shrimati PhD, Ian T. BSc, Huie PhD, Emily S. BSc, Matthew BSc, Lynne A. CRNP, Thomas ADN, Helen F. BSN, Sarah M. MD, Kelly D. MD, PhD, Steven M. MD, Daniel S. MD, PhD, Jason D. PhD, Huseyin PhD, Joshua D. MD,