ArticleClinical immunology (Orlando, Fla.)2015
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Article in Clinical immunology (Orlando, Fla.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.Frontiers in immunology · 2024Pooled it
- A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.Journal of clinical immunology · 2026Article
- Identifying sex-linked metabolomic biomarkers in fish gonads after bacterial infection.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025Review
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Hyper IgE syndrome-related disease treated with dupilumab: A case report.Clinical case reports · 2023Article
- Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small.Acta crystallographica. Section F, Structural biology communications · 2022Article
- A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation.Journal of clinical immunology · 2022Article
- Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.Journal of clinical immunology · 2021Article
- Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- HeterozygousFrontiers in genetics · 2020Article
- Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.European journal of human genetics : EJHG · 2019Article
- Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.BMC pediatrics · 2018Article
- Human hyper-IgE syndrome: singular or plural?Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- Molecular Classification of Primary Immunodeficiencies of T Lymphocytes.Advances in immunology · 2018Review
- What is new in CDG?Journal of inherited metabolic disease · 2017Review
- Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1.PloS one · 2017Article
- Biology, Mechanism, and Structure of Enzymes in the α-d-Phosphohexomutase Superfamily.Advances in protein chemistry and structural biology · 2017Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for glycosylation. Mutations in the PGM3 gene have recently been identified as the cause of novel primary immunodeficiency with a hyper-IgE like syndrome. Here we report the occurrence of a homozygous mutation in the PGM3 gene in a family with immunodeficient children, described already in 1976. DNA from two of the immunodeficient siblings was sequenced and shown to encode the same homozygous missense mutation, causing a destabilized protein with reduced enzymatic capacity. Affected individuals were highly prone to infections, but lack the developmental defects in the nervous and skeletal systems, reported in other families. Moreover, normal IgE levels were found. Thus, belonging to the expanding group of congenital glycosylation defects, PGM3 deficiency is characterized by immunodeficiency, with or without increased IgE levels, and with variable forms of developmental defects affecting other organ systems.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.