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Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

dc.contributor.authorTHIEL, Jens
dc.contributor.authorCHEN, Andrew
dc.contributor.authorKIM, Hong Sook
dc.contributor.authorLLORET, Maria Garcia
dc.contributor.authorSCHULZE, Ilka
dc.contributor.authorEHL, Stephan
dc.contributor.authorPFEIFER, Dietmar
dc.contributor.authorVEELKEN, Hendrik
dc.contributor.authorNIEHUES, Tim
dc.contributor.authorSIEPERMANN, Kathrin
dc.contributor.authorWEINSPACH, Sebastian
dc.contributor.authorReisli, Ismail
dc.contributor.authorKeles, Sevgi
dc.contributor.authorGENEL, Ferah
dc.contributor.authorKutuculer, Necil
dc.contributor.authorKarakoc-Aydiner, Elif
dc.contributor.authorBarlan, Isil
dc.contributor.authorGENNERY, Andrew
dc.contributor.authorMETIN, Ayse
dc.contributor.authorDEGERLIYURT, Aydan
dc.contributor.authorPIETROGRANDE, Maria C.
dc.contributor.authorYEGANEH, Mehdi
dc.contributor.authorBAZ, Zeina
dc.contributor.authorAL-TAMEMI, Salem
dc.contributor.authorKLEIN, Christoph
dc.contributor.authorPUCK, Jennifer M.
dc.contributor.authorHOLLAND, Steven M.
dc.contributor.authorMCCABE, Edward R. B.
dc.contributor.authorGrimbacher, Bodo
dc.contributor.authorCHATILA, Talal A.
dc.contributor.authorCamcioglu, Yildiz
dc.contributor.authorSomer, Ayper
dc.contributor.authorMCGHEE, Sean
dc.contributor.authorWinkler, Sabine
dc.contributor.authorEngelhardt, Karin R.
dc.contributor.authorSASSI, Atfa
dc.contributor.authorWoellner, Cristina
dc.contributor.authorLopez-Herrera, Gabriela
dc.date.accessioned2021-03-03T13:13:27Z
dc.date.available2021-03-03T13:13:27Z
dc.date.issued2009
dc.identifier.citationEngelhardt K. R. , MCGHEE S., Winkler S., SASSI A., Woellner C., Lopez-Herrera G., CHEN A., KIM H. S. , LLORET M. G. , SCHULZE I., et al., "Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome", JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.124, sa.6, ss.1289-1302, 2009
dc.identifier.issn0091-6749
dc.identifier.othervv_1032021
dc.identifier.otherav_32b79e61-6539-4f4e-87bf-79fff615eaac
dc.identifier.urihttp://hdl.handle.net/20.500.12627/38406
dc.identifier.urihttps://doi.org/10.1016/j.jaci.2009.10.038
dc.description.abstractBackground: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was reported to have a homozygous TYK2 mutation. In the remaining patients with hyper-IgE syndrome, the genetic etiology has not yet been identified.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectTemel Bilimler
dc.subjectYaşam Bilimleri
dc.subjectALERJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectİmmünoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.titleLarge deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
dc.typeMakale
dc.relation.journalJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
dc.contributor.departmentDavid Geffen School of Medicine at UCLA , ,
dc.identifier.volume124
dc.identifier.issue6
dc.identifier.startpage1289
dc.identifier.endpage1302
dc.contributor.firstauthorID38666


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