Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF

Basit Öğe Kaydı
dc.contributor.authorKarapinar, Deniz Yilmaz
dc.contributor.authorOzdemir, Hamiyet Hekimci
dc.contributor.authorAkinci, Burcu
dc.contributor.authorYasar, Akkiz Sahin
dc.contributor.authorSivis, Zuhal Onder
dc.contributor.authorOnay, Huseyin
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2020-12-01T12:01:50Z
dc.date.available2020-12-01T12:01:50Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractSevere Congenital Neutropenia (SCN) is a rare inherited disease characterized by an absolute neutrophil count (ANC) lower than 500/mu L. Genetic heterogeneity and biallelic CSF3R mutation has rarely been identified as an underlying genetic defect in SCN. the majority of SCN patients respond to granulocyte colony stimulating factor treatment; however, in patients with inherited CSF3R mutation, ANC cannot generally be increased with granulocyte colony stimulating factor treatment. in such cases, granulocyte macrophage colony stimulating factor presents as an effective treatment option. Herein, we report a case of a 5-year-old SCN girl with homozygous c610-611 del ins AG (p.Q204R) mutation in the CSF3R gene, who was successfully treated with granulocyte macrophage colony stimulating factor.en_US
dc.identifier.doi10.1097/MPH.0000000000001359en_US
dc.identifier.endpageE166en_US
dc.identifier.issn1077-4114
dc.identifier.issn1536-3678
dc.identifier.issue3en_US
dc.identifier.pmid30499904en_US
dc.identifier.scopus2-s2.0-85069812865en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpageE164en_US
dc.identifier.urihttps://doi.org/10.1097/MPH.0000000000001359
dc.identifier.urihttps://hdl.handle.net/11454/62533
dc.identifier.volume42en_US
dc.identifier.wosWOS:000524726900008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofJournal of Pediatric Hematology Oncologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectsevere congenital neutropeniaen_US
dc.subjectbiallelic CSF3R mutationen_US
dc.subjectGM-CSFen_US
dc.subjectsargramostimen_US
dc.titleManagement of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSFen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu