• A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT 

      Jørgensen, Silje Fjellgård; Buechner, Jochen; Myhre, Anders E.; Galteland, Eivind; Spetalen, Signe; Kulseth, Mari Ann; Sorte, Hanne Sørmo; Holla, Øystein Lunde; Lundman, Emma; Alme, Charlotte; Heier, Ingvild; Flægstad, Trond; Fløisand, Yngvar; Benneche, Andreas; Fevang, Børre; Aukrust, Pål; Stray-Pedersen, Asbjørn; Gedde-Dahl, Tobias; Nordøy, Ingvild (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-12-10)
      Purpose: 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 ...