Show simple item record

dc.contributor.authorThomas, Daviden
dc.contributor.authorCharbonnier, Louis-Marieen
dc.contributor.authorSchejtman, Andreaen
dc.contributor.authorAldhekri, Hasanen
dc.contributor.authorCoomber, Eve Len
dc.contributor.authorDufficy, Elizabeth Ren
dc.contributor.authorBeenken, Anne Een
dc.contributor.authorLee, Jamesen
dc.contributor.authorClare, Simonen
dc.contributor.authorSpeak, Anneliese Oen
dc.contributor.authorThrasher, Adrian Jen
dc.contributor.authorSantilli, Giorgiaen
dc.contributor.authorAl-Mousa, Hamouden
dc.contributor.authorAlkuraya, Fowzan Sen
dc.contributor.authorChatila, Talal Aen
dc.contributor.authorSmith, Kennethen
dc.date.accessioned2018-11-22T00:32:46Z
dc.date.available2018-11-22T00:32:46Z
dc.date.issued2019-02en
dc.identifier.issn0091-6749
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/285673
dc.description.abstractThe phagocyte respiratory burst is mediated by the phagocyte NADPH oxidase, a multi-protein subunit complex that facilitates production of reactive oxygen species and which is essential for host defence. Monogenic deficiency of individual subunits leads to chronic granulomatous disease (CGD), which is characterized by an inability to make reactive oxygen species, leading to severe opportunistic infections and auto-inflammation. However, not all cases of CGD are due to mutations in previously identified subunits. We recently showed that Eros, a novel and highly conserved ER-resident transmembrane protein, is essential for the phagocyte respiratory burst in mice because it is required for expression of gp91phox-p22phox heterodimer, which are the membrane bound components of the phagocyte NADPH oxidase. Eros has a human orthologue, CYBC1/EROS. We now show that the function of CYBC1/EROS is conserved in human cells and describe a case of CGD secondary to a homozygous CYBC1/EROS mutation that abolishes EROS protein expression. This work demonstrates the fundamental importance of CYBC1/EROS in human immunity and describes a novel cause of CGD.
dc.description.sponsorshipWellcome Trust
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.publisherElsevier
dc.subjectT-Lymphocytesen
dc.subjectCells, Cultureden
dc.subjectPhagocytesen
dc.subjectAnimalsen
dc.subjectHumansen
dc.subjectMiceen
dc.subjectGranulomatous Disease, Chronicen
dc.subjectReactive Oxygen Speciesen
dc.subjectMembrane Proteinsen
dc.subjectBone Marrow Transplantationen
dc.subjectPedigreeen
dc.subjectRespiratory Bursten
dc.subjectOxidation-Reductionen
dc.subjectMaleen
dc.subjectLymphohistiocytosis, Hemophagocyticen
dc.subjectGene Knockdown Techniquesen
dc.subjectNADPH Oxidasesen
dc.titleEROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.en
dc.typeArticle
prism.endingPage785.e1
prism.issueIdentifier2en
prism.publicationDate2019en
prism.publicationNameThe Journal of allergy and clinical immunologyen
prism.startingPage782
prism.volume143en
dc.identifier.doi10.17863/CAM.33025
dcterms.dateAccepted2018-09-04en
rioxxterms.versionofrecord10.1016/j.jaci.2018.09.019en
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2019-02en
dc.contributor.orcidThomas, Thomas [0000-0002-9738-2329]
dc.contributor.orcidLee, James [0000-0001-5711-9385]
dc.contributor.orcidThrasher, Adrian J [0000-0002-6097-6115]
dc.contributor.orcidChatila, Talal A [0000-0001-7439-2762]
dc.contributor.orcidSmith, Kenneth [0000-0003-3829-4326]
dc.identifier.eissn1097-6825
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idWellcome Trust (206617/Z/17/Z)
pubs.funder-project-idMRC (MR/L019027/1)
rioxxterms.freetoread.startdate2019-10-09


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record