Combined Immunodeficiency due to DOCK8 Deficiency: A Tribute to Prof. Isil Berat Barlan, M.D.

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dc.contributor.authorKeles, Sevgi
dc.contributor.authorChatila, Talal
dc.date.accessioned2024-02-23T14:44:41Z
dc.date.available2024-02-23T14:44:41Z
dc.date.issued2015
dc.departmentNEÜen_US
dc.description.abstractThe hyper IgE syndrome (HIES) is an immunodeficiency characterized by recurrent infections, eczema, and elevated serum IgE concentrations. An autosomal dominant form (AD-HIES) is caused by mutations in the transcription factor STAT3 gene. An autosomal recessive form (AR-HIES) was described in 2004, and is particularly over-represented in Turkish population with HIES. Subsequent studies led to the discovery of the gene encoding the Dedicator of Cytokinesis 8 (DOCK8) as the target of mutations in the overwhelming majority of patients with AR-HIES. This review retraces the steps leading to the discovery of DOCK8 deficiency and the critical role played in the process by Prof. Isil Berat Barlan, M.D., as well as detailing our current knowledge of this disorder and future directions in its investigation and therapy.en_US
dc.identifier.doi10.5606/tji.2015.428
dc.identifier.endpage83en_US
dc.identifier.issn1301-109X
dc.identifier.issn2147-8325
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-84940647204en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage76en_US
dc.identifier.urihttps://doi.org/10.5606/tji.2015.428
dc.identifier.urihttps://hdl.handle.net/20.500.12452/17058
dc.identifier.volume3en_US
dc.identifier.wosWOS:000378327200023en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherTurkish Soc Immunologyen_US
dc.relation.ispartofTurkish Journal Of Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCdc42en_US
dc.subjectDedicator Of Cytokinesis 8en_US
dc.subjectHyper Ige Syndromeen_US
dc.subjectImmunodeficiencyen_US
dc.subjectSignal Transducer And Activator Of Transcription 3en_US
dc.titleCombined Immunodeficiency due to DOCK8 Deficiency: A Tribute to Prof. Isil Berat Barlan, M.D.en_US
dc.typeReview Articleen_US

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