Associated Papers
PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Yang L et al.
Frontiers in Immunology, 2024
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Fusaro M et al.
Journal of Clinical Immunology, 2021
Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance.
Liu XR et al.
Frontiers in Genetics, 2020
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Abolhassani H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuéllar G et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A et al.
American Journal of Human Genetics, 2014
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A et al.
The Journal of Allergy and Clinical Immunology, 2014
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