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Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
Karolinska Inst, Clin Res Ctr, Dept Lab Med, Karolinska Univ Hosp, S-14186 Huddinge, Sweden..
Karolinska Inst, Clin Res Ctr, Dept Lab Med, Karolinska Univ Hosp, S-14186 Huddinge, Sweden..
Natl Hosp Norway, Oslo Univ Hosp, Clin Diagnost & Intervent, Dept Microbiol, N-0424 Oslo, Norway.;Univ Oslo, Inst Clin Med, Dept Med Biochem, N-0424 Oslo, Norway..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
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2015 (English)In: Clinical Immunology, ISSN 1521-6616, E-ISSN 1521-7035, Vol. 161, no 2, 366-372 p.Article in journal (Refereed) PublishedText
Abstract [en]

Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetylglucosamine-l-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, described already in 1976. DNA from two of the immunodeficient siblings was sequenced and shown to encode the same homozygous missense mutation, causing a destabilized protein with reduced enzymatic capacity. Affected individuals were highly prone to infections, but lack the developmental defects in the nervous and skeletal systems, reported in other families. Moreover, normal IgE levels were found. Thus, belonging to the expanding group of congenital glycosylation defects, PGM3 deficiency is characterized by immunodeficiency, with or without increased IgE levels, and with variable forms of developmental defects affecting other organ systems.

Place, publisher, year, edition, pages
2015. Vol. 161, no 2, 366-372 p.
Keyword [en]
Primary immunodeficiency, N-acetylglucosamine-phosphate mutase hyper-IgE syndrome, Congenital defects of glycosylation, CDG
National Category
Immunology in the medical area
URN: urn:nbn:se:uu:diva-270937DOI: 10.1016/j.clim.2015.10.002ISI: 000365831600042PubMedID: 26482871OAI: diva2:890920
EU, FP7, Seventh Framework ProgrammeSwedish Research CouncilStockholm County Council
Available from: 2016-01-05 Created: 2016-01-05 Last updated: 2016-01-12Bibliographically approved

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