Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Stray-Pedersen, ...; Sorte, Hanne Sor ...; Samarakoon, Pubu ...; Gambin, Tomasz; Chinn, Ivan K.; Akdemir, Zeynep ...; visa fler...; Erichsen, Hans C ...; Forbes, Lisa R.; Gu, Shen; Yuan, Bo; Jhangiani, Shali ...; Muzny, Donna M.; Rodningen, Olaug ...; Sheng, Ying; Nicholas, Sarah ...; Noroski, Lenora ...; Seeborg, Filiz O ...; Davis, Carla M.; Canter, Debra L.; Mace, Emily M.; Vece, Timothy J.; Allen, Carl E.; Abhyankar, Harsh ...; Boone, Philip M.; Beck, Christine ...; Wiszniewski, Woj ...; Fevang, Borre; Aukrust, Pal; Tjonnfjord, Geir ...; Gedde-Dahl, Tobi ...; Hjorth-Hansen, H ...; Dybedal, Ingunn; Nordoy, Ingvild; Jorgensen, Silje ...; Abrahamsen, Tore ...; Overland, Torste ...; Bechensteen, Ann ...; Skogen, Vegard; Osnes, Liv T. N.; Kulseth, Mari An ...; Prescott, Trine ...; Rustad, Cecilie ...; Heimdal, Ketil R ...; Belmont, John W.; Rider, Nicholas ...; Chinen, Javier; Cao, Tram N.; Smith, Eric A.; Soledad Caldirol ...; Bezrodnik, Lilia ...; Lugo Reyes, Saul ...; Espinosa Rosales ...; Guerrero-Cursaru ...; Pedroza, Luis Al ...; Poli, Cecilia M.; Franco, Jose L.; Trujillo Vargas, ...; Aldave Becerra, ...; Wright, Nicola; Issekutz, Thomas ...; Issekutz, Andrew ...; Abbott, Jordan; Caldwell, Jason ...; Bayer, Diana K.; Chan, Alice Y.; Aiuti, Alessandr ...; Cancrini, Cateri ...; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gozde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Mus ...; Eldomery, Mohamm ...; Ehlayel, Mohamma ...; Jolles, Stephen; Flato, Berit; Bertuch, Alison ...; Hanson, I. Celin ...; Zhang, Victor W.; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magd ...; Yang, Yaping; Eng, Christine M ...; Boerwinkle, Eric; Gibbs, Richard A ...; Shearer, William ...; Lyle, Robert; Orange, Jordan S ...; Lupski, James R.; visa färre...

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