HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis

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dc.contributor.authorKarapinar, Tuba H.
dc.contributor.authorKarapinar, Deniz Yilmaz
dc.contributor.authorOymak, Yesim
dc.contributor.authorAy, Yilmaz
dc.contributor.authorDemirag, Bengu
dc.contributor.authorAykut, Ayca
dc.contributor.authorOnay, Huseyin
dc.contributor.authorHazan, Filiz
dc.contributor.authorAydinok, Yesim
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorVergin, Canan
dc.date.accessioned2019-10-27T11:08:17Z
dc.date.available2019-10-27T11:08:17Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractThe genetic basis of haemophagocytic lymphohistiocytosis (HLH) has not been elucidated in 10% of affected patients. In this study, we report four HLH episodes in three patients with HAX1 gene mutations. We screened the mutations associated with congenital neutropenia (CN) because the neutropenia persisted following HLH treatment. There were homozygous HAX1 mutations detected in all patients. This is the first case series of patients with CN caused by HAX1 mutation who presented with HLH. We hypothesize that severe neutropenia persists after an HLH episode in children without HLH mutations (especially infants) because these patients have CN caused by HAX1 mutations.en_US
dc.identifier.doi10.1111/bjh.14574en_US
dc.identifier.endpage600en_US
dc.identifier.issn0007-1048
dc.identifier.issn1365-2141
dc.identifier.issue4en_US
dc.identifier.pmid28169428en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage597en_US
dc.identifier.urihttps://doi.org/10.1111/bjh.14574
dc.identifier.urihttps://hdl.handle.net/11454/32146
dc.identifier.volume177en_US
dc.identifier.wosWOS:000401520200012en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofBritish Journal of Haematologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcongenital neutropeniaen_US
dc.subjecthaemophagocytic lymphohistiocytosisen_US
dc.subjectHAX1en_US
dc.subjectchildrenen_US
dc.subjectKostmann syndromeen_US
dc.titleHAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosisen_US
dc.typeArticleen_US

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