Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

Chen Wang; Meera Patel; Amanda Urban; Celeste Nelson; Thomas DiMaggio; Theo Heller; Edward W. Cowen; Heidi H. Kong; Heather Kenney; Enrico Santangeli; Yanhan Wang; Crhistian Toribio‐Dionicio; Nicole Akar-Ghibril; Mehdi Adeli; Corina Gonzalez; Steven M. Holland; Luigi D. Notarangelo; Joshua D. Milner; Jonathan J. Lyons; Alexandra F. Freeman

doi:10.70962/jhi.20250176

Key Points

Patients with phosphoglucomutase-3 deficiency face premature mortality due to chronic infections and malignancies, stressing the need for intervention.
The study highlights that early hematopoietic stem cell transplantation could be life-saving for affected individuals.
Assessment of clinical phenotypes indicates a multisystem nature of PGM3 deficiency, complicating management and prognosis.
Evidence points to recurrent infections and conditions associated with immune deficiency, underlining the importance of monitoring and timely treatment.

Abstract

PGM3 deficiency is a multisystem disorder characterized by recurrent infections, chronic severe neutropenia, and virus-associated malignancies, often leading to premature mortality in early adulthood. These features strongly support early consideration of hematopoietic stem cell transplantation in affected individuals.

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Cite This Study

Wang et al. (2025) studied this question.

synapsesocial.com/papers/6941adef0f5af7fd17df5fce https://doi.org/10.70962/jhi.20250176

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Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

Key Points

Abstract

Discussion

Cite This Study

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

Key Points

Abstract

Discussion

Cite This Study

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