Sökning: WFRF:(Artac Hasibe) > Umeå universitet > Primary immunodefic...
Fältnamn | Indikatorer | Metadata |
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000 | 06678naa a2201429 4500 | |
001 | oai:DiVA.org:umu-133378 | |
003 | SwePub | |
008 | 170425s2017 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1333782 URI |
024 | 7 | a https://doi.org/10.1016/j.jaci.2016.05.0422 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Stray-Pedersen, Asbjorg4 aut |
245 | 1 0 | a Primary immunodeficiency diseases :b Genomic approaches delineate heterogeneous Mendelian disorders |
264 | 1 | b MOSBY-ELSEVIER,c 2017 |
338 | a print2 rdacarrier | |
520 | a Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs. Methods: Patients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping. Results: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/ 110) and management was directly altered in nearly a quarter (26/ 110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. Conclusion: This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Primary immunodeficiency disease | |
653 | a whole-exome sequencing | |
653 | a copy number variants | |
700 | 1 | a Sorte, Hanne Sormo4 aut |
700 | 1 | a Samarakoon, Pubudu4 aut |
700 | 1 | a Gambin, Tomasz4 aut |
700 | 1 | a Chinn, Ivan K.4 aut |
700 | 1 | a Akdemir, Zeynep H. Coban4 aut |
700 | 1 | a Erichsen, Hans Christian4 aut |
700 | 1 | a Forbes, Lisa R.4 aut |
700 | 1 | a Gu, Shen4 aut |
700 | 1 | a Yuan, Bo4 aut |
700 | 1 | a Jhangiani, Shalini N.4 aut |
700 | 1 | a Muzny, Donna M.4 aut |
700 | 1 | a Rodningen, Olaug Kristin4 aut |
700 | 1 | a Sheng, Ying4 aut |
700 | 1 | a Nicholas, Sarah K.4 aut |
700 | 1 | a Noroski, Lenora M.4 aut |
700 | 1 | a Seeborg, Filiz O.4 aut |
700 | 1 | a Davis, Carla M.4 aut |
700 | 1 | a Canter, Debra L.4 aut |
700 | 1 | a Mace, Emily M.4 aut |
700 | 1 | a Vece, Timothy J.4 aut |
700 | 1 | a Allen, Carl E.4 aut |
700 | 1 | a Abhyankar, Harshal A.4 aut |
700 | 1 | a Boone, Philip M.4 aut |
700 | 1 | a Beck, Christine R.4 aut |
700 | 1 | a Wiszniewski, Wojciech4 aut |
700 | 1 | a Fevang, Borre4 aut |
700 | 1 | a Aukrust, Pal4 aut |
700 | 1 | a Tjonnfjord, Geir E.4 aut |
700 | 1 | a Gedde-Dahl, Tobias4 aut |
700 | 1 | a Hjorth-Hansen, Henrik4 aut |
700 | 1 | a Dybedal, Ingunn4 aut |
700 | 1 | a Nordoy, Ingvild4 aut |
700 | 1 | a Jorgensen, Silje F.4 aut |
700 | 1 | a Abrahamsen, Tore G.4 aut |
700 | 1 | a Overland, Torstein4 aut |
700 | 1 | a Bechensteen, Anne Grete4 aut |
700 | 1 | a Skogen, Vegard4 aut |
700 | 1 | a Osnes, Liv T. N.4 aut |
700 | 1 | a Kulseth, Mari Ann4 aut |
700 | 1 | a Prescott, Trine E.4 aut |
700 | 1 | a Rustad, Cecilie F.4 aut |
700 | 1 | a Heimdal, Ketil R.4 aut |
700 | 1 | a Belmont, John W.4 aut |
700 | 1 | a Rider, Nicholas L.4 aut |
700 | 1 | a Chinen, Javier4 aut |
700 | 1 | a Cao, Tram N.4 aut |
700 | 1 | a Smith, Eric A.4 aut |
700 | 1 | a Soledad Caldirola, Maria4 aut |
700 | 1 | a Bezrodnik, Liliana4 aut |
700 | 1 | a Lugo Reyes, Saul Oswaldo4 aut |
700 | 1 | a Espinosa Rosales, Francisco J.4 aut |
700 | 1 | a Guerrero-Cursaru, Nina Denisse4 aut |
700 | 1 | a Pedroza, Luis Alberto4 aut |
700 | 1 | a Poli, Cecilia M.4 aut |
700 | 1 | a Franco, Jose L.4 aut |
700 | 1 | a Trujillo Vargas, Claudia M.4 aut |
700 | 1 | a Aldave Becerra, Juan Carlos4 aut |
700 | 1 | a Wright, Nicola4 aut |
700 | 1 | a Issekutz, Thomas B.4 aut |
700 | 1 | a Issekutz, Andrew C.4 aut |
700 | 1 | a Abbott, Jordan4 aut |
700 | 1 | a Caldwell, Jason W.4 aut |
700 | 1 | a Bayer, Diana K.4 aut |
700 | 1 | a Chan, Alice Y.4 aut |
700 | 1 | a Aiuti, Alessandro4 aut |
700 | 1 | a Cancrini, Caterina4 aut |
700 | 1 | a Holmberg, Eva4 aut |
700 | 1 | a West, Christinau Umeå universitet,Pediatrik4 aut0 (Swepub:umu)chwe0024 |
700 | 1 | a Burstedt, Magnus4 aut |
700 | 1 | a Karaca, Ender4 aut |
700 | 1 | a Yesil, Gozde4 aut |
700 | 1 | a Artac, Hasibe4 aut |
700 | 1 | a Bayram, Yavuz4 aut |
700 | 1 | a Atik, Mehmed Musa4 aut |
700 | 1 | a Eldomery, Mohammad K.4 aut |
700 | 1 | a Ehlayel, Mohammad S.4 aut |
700 | 1 | a Jolles, Stephen4 aut |
700 | 1 | a Flato, Berit4 aut |
700 | 1 | a Bertuch, Alison A.4 aut |
700 | 1 | a Hanson, I. Celine4 aut |
700 | 1 | a Zhang, Victor W.4 aut |
700 | 1 | a Wong, Lee-Jun4 aut |
700 | 1 | a Hu, Jianhong4 aut |
700 | 1 | a Walkiewicz, Magdalena4 aut |
700 | 1 | a Yang, Yaping4 aut |
700 | 1 | a Eng, Christine M.4 aut |
700 | 1 | a Boerwinkle, Eric4 aut |
700 | 1 | a Gibbs, Richard A.4 aut |
700 | 1 | a Shearer, William T.4 aut |
700 | 1 | a Lyle, Robert4 aut |
700 | 1 | a Orange, Jordan S.4 aut |
700 | 1 | a Lupski, James R.4 aut |
710 | 2 | a Umeå universitetb Pediatrik4 org |
773 | 0 | t Journal of Allergy and Clinical Immunologyd : MOSBY-ELSEVIERg 139:1, s. 232-245q 139:1<232-245x 0091-6749x 1097-6825 |
856 | 4 | u http://www.jacionline.org/article/S0091674916306248/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-133378 |
856 | 4 8 | u https://doi.org/10.1016/j.jaci.2016.05.042 |
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