Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
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Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetylglucosamine-1-phosphate, a sugar nucleotide critical for glycosylation pathways. PGM3 defects have been reported in 41 patients of 16 families with immunodeficiency [1, 2, 3, 4, 5, 6, 7, 8]. Mutations in PGM3 were first reported in 17 patients with hyper-IgE syndrome (HIES) [1, 2]. Subsequently, patients with PGM3 mutations were found to have varying degrees of immunological abnormalities including T-B-severe combined immunodeficiency [4, 5, 6], diminished T cell function with high immunoglobulins including IgE [7, 8], and normal IgE with mild immunodeficiency . Herein, we report the clinical course and detailed laboratory investigations of a Thai patient carrying novel mutations in PGM3.
The boy was born at term to non-consanguineous Thai parents. He was the second child, and his older brother was healthy. His parents were both healthy with no histories of immunodeficiency...
This study was supported by the Thailand Research Fund (DPG6180001) and the Chulalongkorn Academic Advancement into Its 2nd Century Project. This research was also supported in part by the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases, NIH. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflict of interest.
This study was reviewed and approved by the human rights and ethic committee of Faculty of Medicine, Ramathibodi Hospital, Mahidol University (ID 10-61-27).
- 6.Pacheco-Cuellar G, Gauthier J, Desilets V, Lachance C, Lemire-Girard M, Rypens F, et al. A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations. J Bone Miner Res. 2017;32:1853–9.CrossRefGoogle Scholar