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PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.

Frontiers in immunology - 1 Jan 2024

Yang Linlin, Zerbato Barbara, Pessina Alex, Brambilla Luca, Andreani Virginia, Frey-Jakobs Stefanie, Fliegauf Manfred, Barbouche Mohamed-Ridha, Zhang Qiaoxia, Chiaradonna Ferdinando, Proietti Michele, Du Xin, Grimbacher Bodo

Abstract excerpt

Background: Hypomorphic mutations in the phosphoacetylglucosamine mutase 3 (PGM3) gene cause a glycosylation disorder that leads to immunodeficiency. It is often associated with recurrent infections and atopy. The exact etiology of this condition remains unclear. Objective: This study aimed to characterize the phenotypes and immunological features associated with PGM3 insufficiency and investigate potential...

Topics

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Cell Differentiation
Cell Proliferation
Congenital Disorders of Glycosylation
Glycosylation
Lymphocyte Activation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphoglucomutase

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Open in PubMed Open full text

Identifiers

PMID: 39776909
DOI: 10.3389/fimmu.2024.1500381
PMCID: PMC11703855

Genes

PGM3
CD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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