MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature

Clin Infect Dis. 2013 Sep;57(5):697-9. doi: 10.1093/cid/cit368. Epub 2013 May 31.

Abstract

We report a case of MonoMAC syndrome in a patient with a GATA2 mutation and discuss the manifestations, diagnosis, and treatment of this novel immunodeficiency disorder.

Keywords: GATA2; MonoMAC; immunodeficiency; monocytopenia; mycobacterial infection.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • GATA2 Transcription Factor / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics*
  • Leukopenia / complications*
  • Leukopenia / diagnosis*
  • Male
  • Mycobacterium Infections / complications*
  • Mycobacterium Infections / diagnosis*
  • Young Adult

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human