GATA2 mutation with recurrent haemophagocytic lymphohistiocytosis and panniculitis: a case report

Rheumatology (Oxford). 2021 Jul 1;60(7):e229-e231. doi: 10.1093/rheumatology/keaa913.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asymptomatic Diseases
  • Fathers
  • Female
  • GATA2 Deficiency / genetics*
  • GATA2 Deficiency / physiopathology
  • GATA2 Transcription Factor / genetics*
  • Humans
  • Infections / physiopathology
  • Lymphedema / physiopathology
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Lymphohistiocytosis, Hemophagocytic / physiopathology
  • Mosaicism
  • Mutation
  • Pancytopenia / physiopathology
  • Panniculitis / genetics*
  • Panniculitis / physiopathology
  • Pedigree
  • Recurrence
  • Shock / physiopathology
  • Siblings

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human