Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review

Clin Rheumatol. 2015 Sep;34(9):1643-5. doi: 10.1007/s10067-015-2905-2. Epub 2015 Mar 5.

Abstract

MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2 mutations and can manifest as disseminated mycobacterial, fungal, and viral infections. While mortality rates for this disorder have been high, it has recently been successfully treated with haploidentical allogeneic stem cell transplant. Since approximately one third of patients may have rheumatologic symptoms, such as erythema nodosum, panniculitis, or arthralgias, rheumatologists may expect to encounter this newly described entity with increasing frequency.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Adult
  • Erythema Nodosum / pathology*
  • Female
  • GATA2 Transcription Factor / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Mutation
  • Panniculitis / pathology*
  • Young Adult

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human