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A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

2021Journal article Open access
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dc.contributor.authorMarujo, F
dc.contributor.authorPelham, SJ
dc.contributor.authorFreixo, J
dc.contributor.authorCordeiro, AI
dc.contributor.authorMartins, C
dc.contributor.authorCasanova, JL
dc.contributor.authorLei, WT
dc.contributor.authorPuel, A
dc.contributor.authorNeves, JF
dc.date.accessioned2022-05-09T13:43:58Z
dc.date.available2022-05-09T13:43:58Z
dc.date.issued2021
dc.description.abstractInborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Clin Immunol . 2021 Aug;41(6):1376-1379pt_PT
dc.identifier.doi10.1007/s10875-021-01026-2pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4067
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerlinkpt_PT
dc.subjectACT1pt_PT
dc.subjectCandida spppt_PT
dc.subjectIL-17pt_PT
dc.subjectTRAF3IP2pt_PT
dc.subjectChronic mucocutaneous candidiasispt_PT
dc.subjectHDE PEDpt_PT
dc.titleA Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1379pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage1376pt_PT
oaire.citation.titleJournal of Clinical Immunologypt_PT
oaire.citation.volume41pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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