DOCK8 deficiency: Insights into pathophysiology, clinical features and management

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dc.contributor.authorBiggs, Catherine M.
dc.contributor.authorKeles, Sevgi
dc.contributor.authorChatila, Talal A.
dc.date.accessioned2024-02-23T14:02:28Z
dc.date.available2024-02-23T14:02:28Z
dc.date.issued2017
dc.departmentNEÜen_US
dc.description.abstractDedicator of cytokinesis 8 (DOCKS) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. It is caused by loss of function mutations in DOCK8, encoding a guanine nucleotide exchange factor highly expressed in lymphocytes that regulates the actin cytoslceleton. Additional roles of DOCK8 have also emerged, including regulating MyD88-dependent Toll-like receptor signaling and the activation of the transcription factor STAT3. DOCK8 deficiency impairs immune cell migration, function and survival, and it impacts both innate and adaptive immune responses. Clinically, DOCKS deficiency is characterized by allergic inflammation as well as susceptibility towards infections, autoimmunity and malignancy. This review details the pathophysiology, clinical features and management of DOCKS deficiency. It also surveys the recently discovered combined immunodeficiency due to DOCK2 deficiency, highlighting in the process the emerging spectrum of PIDs resulting from DOCK protein family abnormalities. (C) 2017 Elsevier Inc. All rights reserved.en_US
dc.description.sponsorshipNational Institutes of Health [2R01A1065617]; NIH [T32A1007512]; CAAIF/AllerGen Research Fellowship; AllerGen Emerging Clinician-Scientist Research Fellowshipen_US
dc.description.sponsorshipThis work was supported by National Institutes of Health grant 2R01A1065617 (to T.A.C.). C.M.B. received support from NIH grant T32A1007512 and is currently supported by the CAAIF/AllerGen Research Fellowship and the AllerGen Emerging Clinician-Scientist Research Fellowship.en_US
dc.identifier.doi10.1016/j.clim.2017.06.003
dc.identifier.endpage82en_US
dc.identifier.issn1521-6616
dc.identifier.issn1521-7035
dc.identifier.pmid28625885en_US
dc.identifier.scopus2-s2.0-85021122139en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage75en_US
dc.identifier.urihttps://doi.org/10.1016/j.clim.2017.06.003
dc.identifier.urihttps://hdl.handle.net/20.500.12452/11724
dc.identifier.volume181en_US
dc.identifier.wosWOS:000405977200011en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAcademic Press Inc Elsevier Scienceen_US
dc.relation.ispartofClinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectActinen_US
dc.subjectCdc42en_US
dc.subjectCombined Immunodeficiencyen_US
dc.subjectDedicator Of Cytokinesisen_US
dc.subjectDock2en_US
dc.subjectDock8en_US
dc.subjectHyper Ige Syndromeen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectRac1en_US
dc.subjectStat3en_US
dc.titleDOCK8 deficiency: Insights into pathophysiology, clinical features and managementen_US
dc.typeReview Articleen_US

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