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Updated: Sep 14, 2025
08:50
Direct Observation of Phagocytosis and NET-formation by Neutrophils in Infected Lungs using 2-photon Microscopy
Published on: June 2, 2011
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Persistent Neutropenia and Atopy in an Adolescent: A Subtle Presentation of Phosphoglucomutase 3 Deficiency
Madalena Fonseca1, Francisco Abrantes1, Sara Pinho2
1Pediatrics, Hospital de Santa Maria, Unidade Local de Saúde de Santa Maria, Lisbon, PRT.
Cureus
|July 23, 2025
Summary
Phosphoglucomutase 3 (PGM3) deficiency is a rare genetic disorder affecting glycosylation. This case highlights its variable presentation, emphasizing the importance of genetic testing for diagnosis and management of this inborn error of immunity.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Phosphoglucomutase 3 (PGM3) deficiency is a rare autosomal recessive congenital disorder of glycosylation.
- It disrupts multiple glycosylation pathways, leading to a spectrum of clinical features from Hyper-IgE syndrome-like symptoms to Severe Combined Immunodeficiency.
Observation:
- A 17-year-old female presented with persistent neutropenia, recurrent childhood infections, eczema, and autism spectrum disorder.
- Clinical evaluation revealed persistent neutropenia, T-cell lymphopenia, and elevated IgE levels.
Findings:
- Genetic analysis identified compound heterozygous likely pathogenic variants in PGM3, including a missense variant and a gene deletion.
- This confirmed the diagnosis of PGM3 deficiency, with chronic neutropenia being the primary diagnostic clue.
Implications:
- This case underscores the significant phenotypic variability of PGM3 deficiency, even in milder presentations.
- Genetic diagnosis is crucial for appropriate clinical follow-up, genetic counseling, and managing this rare inborn error of immunity.
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