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Juvenile idiopathic inflammatory myopathy in a patient with dyskeratosis congenita due to C16orf57 mutation

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dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.buuauthorÇekiç, Şükrü
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentÇocuk İmmünoloji Ana Bilim Dalı
dc.contributor.orcid0000-0002-9574-1842
dc.contributor.orcid0000-0001-8571-2581
dc.contributor.researcheridL-1933-2017
dc.contributor.researcheridAAH-1658-2021
dc.contributor.scopusid34975059200
dc.contributor.scopusid56117061000
dc.date.accessioned2022-12-08T12:08:39Z
dc.date.available2022-12-08T12:08:39Z
dc.date.issued2015-09-23
dc.description.abstractDyskeratosis congenita (DC) is a rare inherited disorder characterized by reticular skin pigmentation, oral cavity leukoplakia, and nail dystrophy. A variety of noncutaneous (dental, pulmonary, gastrointestinal, neurological, genitourinary, ophthalmic, and skeletal) abnormalities also have been reported. An 8-year-old boy with DC developed juvenile idiopathic inflammatory myopathy. C16orf57 mutation was identified as a genetic cause of DC. Treatment with methylprednisolone was initiated, followed with methotrexate, prednisolone, and high-dose intravenous immunoglobulin treatment. This is the first report on a patient with juvenile idiopathic inflammatory myopathy and DC.
dc.identifier.citationKılıç, S. Ş. ve Çekiç, Ş. (2016). "Juvenile idiopathic inflammatory myopathy in a patient with dyskeratosis congenita due to C16orf57 mutation". Journal of Pediatric Hematology/Oncology, 38(2), E75-E77.
dc.identifier.endpageE77
dc.identifier.issn1077-4114
dc.identifier.issn1536-3678
dc.identifier.issue2
dc.identifier.pubmed26535771
dc.identifier.scopus2-s2.0-84959460186
dc.identifier.startpageE75
dc.identifier.urihttps://doi.org/10.1097/MPH.0000000000000455
dc.identifier.urihttps://journals.lww.com/jpho-online/Fulltext/2016/03000/Juvenile_Idiopathic_Inflammatory_Myopathy_in_a.27.aspx
dc.identifier.urihttp://hdl.handle.net/11452/29765
dc.identifier.volume38
dc.identifier.wos000372852700006
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.journalJournal of Pediatric Hematology/Oncology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectOncology
dc.subjectHematology
dc.subjectPediatrics
dc.subjectDermatomyositis
dc.subjectDyskeratosis congenital
dc.subjectInflammatory myopathy
dc.subjectImmunodeficiency
dc.subjectC16orf57 mutation
dc.subject.emtreeImmunoglobulin
dc.subject.emtreeMethotrexate
dc.subject.emtreeMethylprednisolone
dc.subject.emtreePrednisolone
dc.subject.emtreePhosphodiesterase
dc.subject.emtreeUSB1 protein, human
dc.subject.emtreeArticle
dc.subject.emtreeCase report
dc.subject.emtreeChild
dc.subject.emtreeClinical feature
dc.subject.emtreeDisease duration
dc.subject.emtreeDrug megadose
dc.subject.emtreeDyskeratosis congenita
dc.subject.emtreeElectromyogram
dc.subject.emtreeGene identification
dc.subject.emtreeGene mutation
dc.subject.emtreeHeliotrope rash
dc.subject.emtreeHuman
dc.subject.emtreeHuman cell
dc.subject.emtreeJuvenile idiopathic inflammatory myopathy
dc.subject.emtreeLaboratory test
dc.subject.emtreeMale
dc.subject.emtreeMuscle fatigue
dc.subject.emtreeMuscle weakness
dc.subject.emtreeMyositis
dc.subject.emtreeNuclear magnetic resonance imaging
dc.subject.emtreePriority journal
dc.subject.emtreeRash
dc.subject.emtreeSchool child
dc.subject.emtreeComplication
dc.subject.emtreeDyskeratosis congenita
dc.subject.emtreeGenetics
dc.subject.emtreeMutation
dc.subject.emtreeMyositis
dc.subject.meshChild
dc.subject.meshDyskeratosis congenita
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshMyositis
dc.subject.meshPhosphoric diester hydrolases
dc.subject.scopusDyskeratosis Congenita; Mutation; Telomerase RNA
dc.subject.wosOncology
dc.subject.wosHematology
dc.subject.wosPediatrics
dc.titleJuvenile idiopathic inflammatory myopathy in a patient with dyskeratosis congenita due to C16orf57 mutation
dc.typeArticle
dc.wos.quartileQ4
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk İmmünoloji Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

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