Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00693-6
Abstract: To the Editor: Phosphoglucomutase 3 (PGM3) is an enzyme converting Nacetyl-glucosamine-6-phosphate to N-acetylglucosamine-1phosphate, a sugar nucleotide critical for glycosylation pathways. PGM3 defects have been reported in 41 patients of 16 families with immunodeficiency [1–8]. Mutations… read more here.
Keywords: cells normal; range; normal range; thai patient ... See more keywords