Article
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Clinical immunology (Orlando, Fla.) - 1 Dec 2015
Lundin Karin E, Hamasy Abdulrahman, Backe Paul Hoff, Moens Lotte N, Falk-Sörqvist Elin, Elgstøen Katja B, Mørkrid Lars, Bjørås Magnar, Granert Carl, Norlin Anna-Carin, Nilsson Mats, Christensson Birger, Stenmark Stephan, Smith C I Edvard
Abstract excerpt
Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for glycosylation. Mutations in the PGM3 gene have recently been identified as the cause of novel primary immunodeficiency with a hyper-IgE like syndrome. Here we report the occurrence of a homozygous mutation in the PGM3 gene in a family with immunodeficient children,...
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