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Susceptibility to i...
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
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- Lundin, Karin E (author)
- Karolinska Institutet
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- Hamasy, Abdulrahman (author)
- Karolinska Institutet
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- Backe, Paul Hoff (author)
- 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.
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- Moens, Lotte N. (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Falk-Sörqvist, Elin (author)
- Uppsala universitet,Molekylära verktyg
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- Elgstøen, Katja B (author)
- Univ Oslo, Inst Clin Med, Dept Med Biochem, N-0424 Oslo, Norway.
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- Mørkrid, Lars (author)
- Univ Oslo, Inst Clin Med, Dept Med Biochem, N-0424 Oslo, Norway.
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- Bjørås, Magnar (author)
- Natl Hosp Norway, Oslo Univ Hosp, Clin Diagnost & Intervent, Dept Microbiol, N-0424 Oslo, Norway.;NTNU, Inst Canc Res & Mol Med, N-7491 Trondheim, Norway.
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- Granert, Carl (author)
- Karolinska Univ Hosp, Clin Immunol Sect, Immunodeficiency Unit, S-14186 Stockholm, Sweden.
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- Norlin, Anna-Carin (author)
- Karolinska Univ Hosp, Clin Immunol Sect, Immunodeficiency Unit, S-14186 Stockholm, Sweden.;Karolinska Univ Hosp, Karolinska Univ Lab, Clin Immunol & Transfus Med, S-14186 Huddinge, Sweden.
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- Nilsson, Mats (author)
- Uppsala universitet,Stockholms universitet,Science for Life Laboratory (SciLifeLab),Institutionen för biokemi och biofysik,Uppsala University, Sweden,Molekylära verktyg,Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, S-17121 Stockholm, Sweden.
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- Christensson, Birger (author)
- Karolinska Institutet
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- Stenmark, Stephan (author)
- Umeå universitet,Institutionen för klinisk mikrobiologi,Umea Univ, Dept Clin Microbiol, S-90187 Umea, Sweden.
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- Smith, C I Edvard (author)
- Karolinska Institutet
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Karolinska Institutet 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. (creator_code:org_t)
- Elsevier, 2015
- 2015
- English.
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In: Clinical Immunology. - : Elsevier. - 1521-6616 .- 1521-7035. ; 161:2, s. 366-372
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Mikrobiologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Microbiology in the medical area (hsv//eng)
Keyword
- Primary immunodeficiency
- N-acetylglucosamine-phosphate mutase hyper-IgE syndrome
- Congenital fects of glycosylation
- CDG
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Lundin, Karin E
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Hamasy, Abdulrah ...
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Backe, Paul Hoff
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Moens, Lotte N.
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Falk-Sörqvist, E ...
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Elgstøen, Katja ...
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Mørkrid, Lars
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Bjørås, Magnar
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Granert, Carl
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Norlin, Anna-Car ...
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Nilsson, Mats
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Christensson, Bi ...
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Stenmark, Stepha ...
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Smith, C I Edvar ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Microbiology in ...
- Articles in the publication
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Clinical Immunol ...
- By the university
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Umeå University
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Stockholm University
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Uppsala University
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Karolinska Institutet