Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening

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dc.contributor.authorDasouki, Majed
dc.contributor.authorOkonkwo, Kingsley C.
dc.contributor.authorRay, Abhishek
dc.contributor.authorFolmsbeel, Caspian K.
dc.contributor.authorGozales, Diana
dc.contributor.authorKeles, Sevgi
dc.contributor.authorPuck, Jennifer M.
dc.date.accessioned2020-03-26T18:14:04Z
dc.date.available2020-03-26T18:14:04Z
dc.date.issued2011
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractLoss of function of DOCK8 is the major cause of autosomal recessive hyper IgE syndrome, a primary immunodeficiency with adaptive and innate immune dysfunction. Patients affected with ARHIES have atopic dermatitis and recurrent, potentially life-threatening viral and bacterial infections. Three consanguineous Pakistani siblings presented with severe atopic dermatitis and superinfection. Direct sequencing of DOCK8 in all three affected siblings demonstrated homozygosity for a deleterious, novel exon 14 frame shift mutation. Current newborn screening for severe combined immunodeficiency syndrome (SCID) and related T cell disorders relies on the quantitation of T Cell Receptor Excision Cells (TRECs) in dried blood spots (DBS). Significantly, both older affected siblings had undetectable TRECs, and TREC copy number was reduced in the youngest sibling. These findings suggest that AR-HIES may be detected by TREC newborn screening, and this diagnosis should be considered in the evaluation of newborns with abnormal TRECs who do not have typical SCID. (C) 2011 Elsevier Inc. All rights reserved.en_US
dc.description.sponsorshipNIAID NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [R01 AI065617, R21 AI087627]en_US
dc.identifier.doi10.1016/j.clim.2011.06.003en_US
dc.identifier.endpage132en_US
dc.identifier.issn1521-6616en_US
dc.identifier.issue2en_US
dc.identifier.pmid21763205en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage128en_US
dc.identifier.urihttps://dx.doi.org/10.1016/j.clim.2011.06.003
dc.identifier.urihttps://hdl.handle.net/20.500.12395/26296
dc.identifier.volume141en_US
dc.identifier.wosWOS:000296404400003en_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.selcuk20240510_oaigen_US
dc.subjectHyper-IgEen_US
dc.subjectDermatitisen_US
dc.subjectDOCK8en_US
dc.subjectJob sdynromeen_US
dc.subjectImmunodeficiencyen_US
dc.subjectTRECsen_US
dc.titleDeficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screeningen_US
dc.typeArticleen_US

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