MonoMAC syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 869-873, 2014.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-254179
Responsible library:
WPRO
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Syndrome
/
Monocytes
/
GATA2 Transcription Factor
/
Genetics
/
Immunologic Deficiency Syndromes
/
Mutation
/
Mycobacterium Infections
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2014
Document type:
Article