Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
immunodeficiency disorder |
| gptkbp:affects |
immune system
|
| gptkbp:affectsCellType |
gptkb:NK_cells
gptkb:B_cells monocytes |
| gptkbp:alternativeName |
GATA2 deficiency
Monocytopenia and Mycobacterial Infection syndrome |
| gptkbp:complication |
gptkb:acute_myeloid_leukemia
myelodysplastic syndrome |
| gptkbp:firstDescribed |
2010
|
| gptkbp:hasGeneticCause |
GATA2 mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
MonoMAC syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
614172
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
fungal infections
viral infections pulmonary alveolar proteinosis monocytopenia mycobacterial infections progressive bone marrow failure |
| gptkbp:treatment |
hematopoietic stem cell transplantation
antimicrobial therapy |
| gptkbp:bfsParent |
gptkb:GATA2
|
| gptkbp:bfsLayer |
7
|