Associated Papers
Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).
Zidi W et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2024
PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Yang L et al.
Frontiers in Immunology, 2024
Profound differences in IgE and IgG recognition of micro-arrayed allergens in hyper-IgE syndromes.
Garib V et al.
Allergy, 2022
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
Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients.
Ben-Ali M et al.
The Journal of Allergy and Clinical Immunology, 2019
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
Ben-Khemis L et al.
Molecular Immunology, 2017
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
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.
Barbouche MR et al.
Frontiers in Immunology, 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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