Sökning: onr:"swepub:oai:DiVA.org:umu-113722" > Susceptibility to i...
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000 | 05851naa a2200661 4500 | |
001 | oai:DiVA.org:umu-113722 | |
003 | SwePub | |
008 | 151228s2015 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:su-124711 | |
009 | oai:DiVA.org:uu-270937 | |
009 | oai:prod.swepub.kib.ki.se:132496828 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1137222 URI |
024 | 7 | a https://doi.org/10.1016/j.clim.2015.10.0022 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1247112 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2709372 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1324968282 URI |
040 | a (SwePub)umud (SwePub)sud (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Lundin, Karin Eu Karolinska Institutet4 aut |
245 | 1 0 | a Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene |
264 | 1 | b Elsevier,c 2015 |
338 | a electronic2 rdacarrier | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Mikrobiologi inom det medicinska området0 (SwePub)301092 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Microbiology in the medical area0 (SwePub)301092 hsv//eng |
653 | a Primary immunodeficiency | |
653 | a N-acetylglucosamine-phosphate mutase hyper-IgE syndrome | |
653 | a Congenital fects of glycosylation | |
653 | a CDG | |
700 | 1 | a Hamasy, Abdulrahmanu Karolinska Institutet4 aut |
700 | 1 | a Backe, Paul Hoffu 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.4 aut |
700 | 1 | a Moens, Lotte N.u Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)lotmo617 |
700 | 1 | a Falk-Sörqvist, Elinu Uppsala universitet,Molekylära verktyg4 aut0 (Swepub:uu)elifa876 |
700 | 1 | a Elgstøen, Katja Bu Univ Oslo, Inst Clin Med, Dept Med Biochem, N-0424 Oslo, Norway.4 aut |
700 | 1 | a Mørkrid, Larsu Univ Oslo, Inst Clin Med, Dept Med Biochem, N-0424 Oslo, Norway.4 aut |
700 | 1 | a Bjørås, Magnaru 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.4 aut |
700 | 1 | a Granert, Carlu Karolinska Univ Hosp, Clin Immunol Sect, Immunodeficiency Unit, S-14186 Stockholm, Sweden.4 aut |
700 | 1 | a Norlin, Anna-Carinu 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.4 aut |
700 | 1 | a Nilsson, Matsu 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.4 aut0 (Swepub:uu)matsnils |
700 | 1 | a Christensson, Birgeru Karolinska Institutet4 aut |
700 | 1 | a Stenmark, Stephanu Umeå universitet,Institutionen för klinisk mikrobiologi,Umea Univ, Dept Clin Microbiol, S-90187 Umea, Sweden.4 aut0 (Swepub:umu)stst0011 |
700 | 1 | a Smith, C I Edvardu Karolinska Institutet4 aut |
710 | 2 | a Karolinska Institutetb 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.4 org |
773 | 0 | t Clinical Immunologyd : Elsevierg 161:2, s. 366-372q 161:2<366-372x 1521-6616x 1521-7035 |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:890056/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://doi.org/10.1016/j.clim.2015.10.002 |
856 | 4 | u https://doi.org/10.1016/j.clim.2015.10.002y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:890920/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-113722 |
856 | 4 8 | u https://doi.org/10.1016/j.clim.2015.10.002 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-124711 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-270937 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:132496828 |
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