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dc.contributor.authorJørgensen, Silje Fjellgård
dc.contributor.authorBuechner, Jochen
dc.contributor.authorMyhre, Anders E.
dc.contributor.authorGalteland, Eivind
dc.contributor.authorSpetalen, Signe
dc.contributor.authorKulseth, Mari Ann
dc.contributor.authorSorte, Hanne Sørmo
dc.contributor.authorHolla, Øystein Lunde
dc.contributor.authorLundman, Emma
dc.contributor.authorAlme, Charlotte
dc.contributor.authorHeier, Ingvild
dc.contributor.authorFlægstad, Trond
dc.contributor.authorFløisand, Yngvar
dc.contributor.authorBenneche, Andreas
dc.contributor.authorFevang, Børre
dc.contributor.authorAukrust, Pål
dc.contributor.authorStray-Pedersen, Asbjørn
dc.contributor.authorGedde-Dahl, Tobias
dc.contributor.authorNordøy, Ingvild
dc.date.accessioned2022-01-28T12:34:37Z
dc.date.available2022-01-28T12:34:37Z
dc.date.issued2021-12-10
dc.description.abstractPurpose: GATA2 deficiency is a rare primary immunodeficiency that has become increasingly recognized due to improved molecular diagnostics and clinical awareness. The only cure for GATA2 deficiency is allogeneic hematopoietic stem cell transplantation (allo-HSCT). The inconsistency of genotype-phenotype correlations makes the decision regarding "who and when" to transplant challenging. Despite considerable morbidity and mortality, the reported proportion of patients with GATA2 deficiency that has undergone allo-HSCT is low (~ 35%). The purpose of this study was to explore if detailed clinical, genetic, and bone marrow characteristics could predict end-point outcome, i.e., death and allo-HSCT. Methods: All medical genetics departments in Norway were contacted to identify GATA2 deficient individuals. Clinical information, genetic variants, treatment, and outcome were subsequently retrieved from the patients' medical records. Results: Between 2013 and 2020, we identified 10 index cases or probands, four additional symptomatic patients, and no asymptomatic patients with germline GATA2 variants. These patients had a diverse clinical phenotype dominated by cytopenia (13/14), myeloid neoplasia (10/14), warts (8/14), and hearing loss (7/14). No valid genotype-phenotype correlations were found in our data set, and the phenotypes varied also within families. We found that 11/14 patients (79%), with known GATA2 deficiency, had already undergone allo-HSCT. In addition, one patient is awaiting allo-HSCT. The indications to perform allo-HSCT were myeloid neoplasia, disseminated viral infection, severe obliterating bronchiolitis, and/or HPV-associated in situ carcinoma. Two patients died, 8 months and 7 years after allo-HSCT, respectively. Conclusion: Our main conclusion is that the majority of patients with symptomatic GATA2 deficiency will need allo-HSCT, and a close surveillance of these patients is important to find the "optimal window" for allo-HSCT. We advocate a more offensive approach to allo-HSCT than previously described.en_US
dc.identifier.citationJørgensen, Buechner, Myhre, Galteland, Spetalen, Kulseth, Sorte, Holla, Lundman, Alme, Heier, Flægstad, Fløisand, Benneche, Fevang, Aukrust, Stray-Pedersen, Gedde-Dahl, Nordøy. A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT. Journal of Clinical Immunology. 2021en_US
dc.identifier.cristinIDFRIDAID 1971321
dc.identifier.doi10.1007/s10875-021-01189-y
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.urihttps://hdl.handle.net/10037/23832
dc.language.isoengen_US
dc.publisherSpringeren_US
dc.relation.journalJournal of Clinical Immunology
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2021 The Author(s)en_US
dc.titleA Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCTen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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