MonoMAC syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 869-873, 2014.
Artículo
en Chino
| WPRIM
| ID: wpr-254179
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Síndrome
/
Monocitos
/
Factor de Transcripción GATA2
/
Genética
/
Síndromes de Inmunodeficiencia
/
Mutación
/
Infecciones por Mycobacterium
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2014
Tipo del documento:
Artículo
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