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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

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dc.contributor.authorStray-Pedersen, Asbjorg
dc.contributor.authorSorte, Hanne Sormo
dc.contributor.authorSamarakoon, Pubudu
dc.contributor.authorGambin, Tomasz
dc.contributor.authorChinn, Ivan K.
dc.contributor.authorAkdemir, Zeynep H. Coban
dc.contributor.authorErichsen, Hans Christian
dc.contributor.authorForbes, Lisa R.
dc.contributor.authorGu, Shen
dc.contributor.authorYuan, Bo
dc.contributor.authorJhangiani, Shalini N.
dc.contributor.authorMuzny, Donna M.
dc.contributor.authorRodningen, Olaug Kristin
dc.contributor.authorSheng, Ying
dc.contributor.authorNicholas, Sarah K.
dc.contributor.authorNoroski, Lenora M.
dc.contributor.authorSeeborg, Filiz O.
dc.contributor.authorDavis, Carla M.
dc.contributor.authorCanter, Debra L.
dc.contributor.authorMace, Emily M.
dc.contributor.authorVece, Timothy J.
dc.contributor.authorAllen, Carl E.
dc.contributor.authorAbhyankar, Harshal A.
dc.contributor.authorBoone, Philip M.
dc.contributor.authorBeck, Christine R.
dc.contributor.authorWiszniewski, Wojciech
dc.contributor.authorFevang, Borre
dc.contributor.authorAukrust, Pal
dc.contributor.authorTjonnfjord, Geir E.
dc.contributor.authorGedde-Dahl, Tobias
dc.contributor.authorHjorth-Hansen, Henrik
dc.contributor.authorDybedal, Ingunn
dc.contributor.authorNordoy, Ingvild
dc.contributor.authorJorgensen, Silje F.
dc.contributor.authorAbrahamsen, Tore G.
dc.contributor.authorOverland, Torstein
dc.contributor.authorBechensteen, Anne Grete
dc.contributor.authorSkogen, Vegard
dc.contributor.authorOsnes, Liv T. N.
dc.contributor.authorKulseth, Mari Ann
dc.contributor.authorPrescott, Trine E.
dc.contributor.authorRustad, Cecilie F.
dc.contributor.authorHeimdal, Ketil R.
dc.contributor.authorBelmont, John W.
dc.contributor.authorRider, Nicholas L.
dc.contributor.authorChinen, Javier
dc.contributor.authorCao, Tram N.
dc.contributor.authorSmith, Eric A.
dc.contributor.authorSoledad Caldirola, Maria
dc.contributor.authorBezrodnik, Liliana
dc.contributor.authorLugo Reyes, Saul Oswaldo
dc.contributor.authorEspinosa Rosales, Francisco J.
dc.contributor.authorGuerrero-Cursaru, Nina Denisse
dc.contributor.authorPedroza, Luis Alberto
dc.contributor.authorPoli, Cecilia M.
dc.contributor.authorFranco, Jose L.
dc.contributor.authorTrujillo Vargas, Claudia M.
dc.contributor.authorAldave Becerra, Juan Carlos
dc.contributor.authorWright, Nicola
dc.contributor.authorIssekutz, Thomas B.
dc.contributor.authorIssekutz, Andrew C.
dc.contributor.authorAbbott, Jordan
dc.contributor.authorCaldwell, Jason W.
dc.contributor.authorBayer, Diana K.
dc.contributor.authorChan, Alice Y.
dc.contributor.authorAiuti, Alessandro
dc.contributor.authorCancrini, Caterina
dc.contributor.authorHolmberg, Eva
dc.contributor.authorWest, Christina
dc.contributor.authorBurstedt, Magnus
dc.contributor.authorKaraca, Ender
dc.contributor.authorYesil, GÖZDE
dc.contributor.authorArtac, Hasibe
dc.contributor.authorBayram, Yavuz
dc.contributor.authorAtik, Mehmed Musa
dc.contributor.authorEldomery, Mohammad K.
dc.contributor.authorEhlayel, Mohammad S.
dc.contributor.authorJolles, Stephen
dc.contributor.authorFlato, Berit
dc.contributor.authorBertuch, Alison A.
dc.contributor.authorHanson, I. Celine
dc.contributor.authorZhang, Victor W.
dc.contributor.authorWong, Lee-Jun
dc.contributor.authorHu, Jianhong
dc.contributor.authorWalkiewicz, Magdalena
dc.contributor.authorYang, Yaping
dc.contributor.authorEng, Christine M.
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorShearer, William T.
dc.contributor.authorLyle, Robert
dc.contributor.authorOrange, Jordan S.
dc.contributor.authorLupski, James R.
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:42:59Z
dc.date.available2019-11-17T23:42:59Z
dc.date.issued2017-01-01
dc.description.abstractBackground: 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.
dc.identifier.citationStray-Pedersen A., Sorte H. S. , Samarakoon P., Gambin T., Chinn I. K. , Akdemir Z. H. C. , Erichsen H. C. , Forbes L. R. , Gu S., Yuan B., et al., -Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders-, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.139, ss.232-245, 2017
dc.identifier.pubmed27577878
dc.identifier.trdizintrdizin
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10396
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titlePrimary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
dc.typeArticle
dspace.entity.typePublication
local.avesis.id85d8886c-4d6c-41ed-a53e-232103b19aae
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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