Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency
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.
Authors
- Heather Kenney (ORCID: https://orcid.org/0009-0006-7009-2547)
- Joshua D. Milner (ORCID: https://orcid.org/0000-0002-3913-3869)
- Thomas DiMaggio (ORCID: https://orcid.org/0000-0002-3051-5553)
- Yanhan Wang (ORCID: https://orcid.org/0000-0001-6935-0971)
- Nicole Akar-Ghibril (ORCID: https://orcid.org/0000-0002-3884-081X)
- Edward W. Cowen (ORCID: https://orcid.org/0000-0003-1918-4324)
- Jonathan J. Lyons (ORCID: https://orcid.org/0000-0002-2346-8189)
- Corina Gonzalez (ORCID: https://orcid.org/0000-0003-0169-9805)
- Heidi H. Kong (ORCID: https://orcid.org/0000-0003-4424-064X)
- Mehdi Adeli (ORCID: https://orcid.org/0000-0002-3051-3080)
- Crhistian Toribio‐Dionicio (ORCID: https://orcid.org/0000-0002-3198-5549)
- Luigi Daniele Notarangelo (ORCID: https://orcid.org/0000-0002-8335-0262)
- Chen Wang (ORCID: https://orcid.org/0000-0003-4055-7391)
- Steven M. Holland (ORCID: https://orcid.org/0000-0003-3207-5464)
- Alexandra F. Freeman (ORCID: https://orcid.org/0000-0001-7005-8345)
- Theo Heller (ORCID: https://orcid.org/0000-0002-2643-6289)
- Amanda Urban (ORCID: https://orcid.org/0009-0004-8186-8764)
- Celeste Nelson (ORCID: https://orcid.org/0000-0002-2304-9486)
- Meera Patel (ORCID: https://orcid.org/0009-0003-4473-0320)
- Enrico Santangeli (ORCID: https://orcid.org/0009-0002-2983-2866)
Institutions
- National Institutes of Health (US)
- Columbia University Irving Medical Center (US)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (US)
- National Institute of Diabetes and Digestive and Kidney Diseases (US)
- Memorial Healthcare System (US)
- VA San Diego Healthcare System (US)
- Frederick National Laboratory for Cancer Research (US)
- National Institute of Allergy and Infectious Diseases (US)
- Joe DiMaggio Children's Hospital (US)
- Hamad Medical Corporation (QA)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-11-26
- DOI
- https://doi.org/10.70962/jhi.20250176
- Citations
- 1
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- U.S. Department of Health and Human Services
- National Institutes of Health
- National Cancer Institute
- National Institute of Allergy and Infectious Diseases