[MonoMAC syndrome]

Zhongguo Dang Dai Er Ke Za Zhi. 2014 Aug;16(8):869-73.
[Article in Chinese]

Abstract

MonoMAC syndrome is a newly discovered immune deficiency syndrome caused by GATA-2 mutation, which is an autosomal dominant genetic disease. MonoMAC syndrome has typical immune cell abnormalities, with severe infection and is prone to develop into a hematological disease. Therapeutics for this disease mainly relies on symptomatic treatment and hematopoietic stem cell transplantation. In this paper, the research advances in clinical manifestations, laboratory tests, pathogenesis, diagnosis and treatment of MonoMAC syndrome are reviewed.

Publication types

  • English Abstract
  • Review

MeSH terms

  • GATA2 Transcription Factor / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Monocytes / pathology*
  • Mutation*
  • Mycobacterium Infections / etiology*
  • Syndrome

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human