Cristin-resultat-ID: 1971321
Sist endret: 16. februar 2022, 14:28
NVI-rapporteringsår: 2021
Resultat
Vitenskapelig artikkel
2021

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

Bidragsytere:
  • Silje Fjellgård Jørgensen
  • Jochen Buechner
  • Anders Eivind Myhre
  • Eivind Galteland
  • Signe Spetalen
  • Mari Ann Kulseth
  • mfl.

Tidsskrift

Journal of Clinical Immunology
ISSN 0271-9142
e-ISSN 1573-2592
NVI-nivå 1

Om resultatet

Vitenskapelig artikkel
Publiseringsår: 2021
Publisert online: 2021
Open Access

Importkilder

Scopus-ID: 2-s2.0-85120859434

Beskrivelse Beskrivelse

Tittel

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

Sammendrag

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 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.

Bidragsytere

Silje Fjellgård Jørgensen

  • Tilknyttet:
    Forfatter
    ved Institutt for indremedisinsk forskning (OUS) ved Oslo universitetssykehus HF
  • Tilknyttet:
    Forfatter
    ved Seksjon for klinisk immunologi og infeksjonsmedisin ved Oslo universitetssykehus HF

Jochen Buchner

Bidragsyterens navn vises på dette resultatet som Jochen Buechner
  • Tilknyttet:
    Forfatter
    ved Barnemedisinsk avdeling ved Oslo universitetssykehus HF

Anders Eivind Myhre

  • Tilknyttet:
    Forfatter
    ved Avdeling for blodsykdommer ved Oslo universitetssykehus HF

Eivind Galteland

  • Tilknyttet:
    Forfatter
    ved Avdeling for blodsykdommer ved Oslo universitetssykehus HF

Signe Spetalen

  • Tilknyttet:
    Forfatter
    ved Avdeling for patologi ved Oslo universitetssykehus HF
1 - 5 av 19 | Neste | Siste »