rs1573858 GATA-2 homozygote variant associated with pulmonary alveolar proteinosis, cytopenia and neurologic dysfunction

Pulmonology. 2020 May-Jun;26(3):178-180. doi: 10.1016/j.pulmoe.2019.09.008. Epub 2019 Oct 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Bronchoalveolar Lavage / methods
  • Dystonia / diagnosis
  • Female
  • GATA2 Deficiency / complications*
  • GATA2 Deficiency / diagnosis
  • GATA2 Deficiency / genetics*
  • GATA2 Transcription Factor / genetics*
  • Homozygote
  • Humans
  • Leukopenia / etiology
  • Mutation
  • Nervous System Diseases / etiology
  • Nervous System Diseases / physiopathology
  • Pulmonary Alveolar Proteinosis / complications
  • Pulmonary Alveolar Proteinosis / diagnosis
  • Pulmonary Alveolar Proteinosis / genetics*
  • Pulmonary Alveolar Proteinosis / therapy
  • Tomography, X-Ray Computed / methods

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human