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

doi:10.1016/j.jaci.2014.02.013

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Article

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

The Journal of allergy and clinical immunology - 1 May 2014

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

Abstract excerpt

BACKGROUND: Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. OBJECTIVE: We sought to define a genetic syndrome of severe atopy, increased serum IgE levels, immune deficiency, autoimmunity, and motor and neurocognitive impairment. METHODS: Eight patients from 2 families with similar syndromic features were studied. Thorough...

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Identifiers

PMID: 24589341
DOI: 10.1016/j.jaci.2014.02.013
PMCID: PMC4016982

Genes

PGM3

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