Can somatic GATA2 mutation mimic germ line GATA2 mutation?

Blood Adv. 2018 Apr 24;2(8):904-908. doi: 10.1182/bloodadvances.2017012617.

Abstract

  1. Somatic GATA2 mutation is associated with immunodeficiency and pulmonary alveolar proteinosis in a patient with myeloproliferative neoplasm.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Examination
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • GATA2 Transcription Factor / genetics*
  • Germ-Line Mutation
  • Humans
  • Lung Diseases / pathology
  • Middle Aged
  • Mutation*
  • Myelodysplastic-Myeloproliferative Diseases / complications
  • Myelodysplastic-Myeloproliferative Diseases / diagnostic imaging
  • Myelodysplastic-Myeloproliferative Diseases / genetics*
  • Sequence Analysis, DNA

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human