Hyperimmunoglobulin D Syndrome: Case Report

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dc.contributor.authorSen, Hacer
dc.contributor.authorSılan, Fatma
dc.contributor.authorBinnetoglu, Emine
dc.contributor.authorGunes, Fahri
dc.contributor.authorAkurut, Cisem
dc.contributor.authorUludağ, Ahmet
dc.contributor.authorÖzdemir, Öztürk
dc.date.accessioned2025-01-27T20:50:17Z
dc.date.available2025-01-27T20:50:17Z
dc.date.issued2015
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractHyperimmunoglobulin D syndrome is a rare autosomal recessive inherited disease characterized by fever attacks, which may be accompanied by chills, headache, abdominal pain, and cervical lymphadenopathy. Typical hyperimmunoglobulin D syndrome patients start to show symptoms in the first years of life. Diagnosis is based on the presence of symptoms with reduction in the enzyme activity of mevalonate kinase or by detecting the mutation in the mevalonate kinase gene that causes the disease. In this article, we present a 21-year-old female patient who started having fever attacks in early childhood and was diagnosed with familial Mediterranean fever; however, in spite of treatment, whose complaints did not resolve. The genetic analysis, which detected homozygote mevalonate kinase gene mutation and resulted in the hyperimmunoglobulin D syndrome diagnosis, is presented with an accompanying discussion of the literature.
dc.identifier.doi10.5606/ArchRheumatol.2015.4986
dc.identifier.endpage246
dc.identifier.issn2148-5046
dc.identifier.issn1309-0283
dc.identifier.issue3
dc.identifier.scopus2-s2.0-84941112922
dc.identifier.scopusqualityQ3
dc.identifier.startpage244
dc.identifier.trdizinid177804
dc.identifier.urihttps://doi.org/10.5606/ArchRheumatol.2015.4986
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/177804
dc.identifier.urihttps://hdl.handle.net/20.500.12428/25458
dc.identifier.volume30
dc.identifier.wosWOS:000363083300010
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.publisherTurkish League Against Rheumatism
dc.relation.ispartofArchives of Rheumatology
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectHereditary autoinflammatory disease
dc.subjecthyperimmunoglobulin D syndrome
dc.subjectmevalonate kinase mutation
dc.titleHyperimmunoglobulin D Syndrome: Case Report
dc.typeArticle

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