Monogenetic defects associated with CN and novel therapeutic perspectives
| Disease . | MIM # . | Gene . | Inheritance . | Predisposition to MDS/AML . | Novel therapeutic ideas . |
|---|---|---|---|---|---|
| SCN1 | 202700 | ELANE | AD | + | NE inhibitors? |
| Proteasome inhibitor? | |||||
| SCN2 | 600871 | GFI1 | AD | + | Histone modifiers? |
| SCN3 | 605998 | HAX1 | AR | + | Gene replacement in HSC? |
| SCN4 | 611045 | G6PC3 | AR | ? | ? |
| SCN5 | 610035 | VPS45A | AR | ? | ? |
| SCN6 | 616012 | JAGN1 | AR | + | GM-CSF? |
| SCN7 | 138971 | CSF3R | AR | — | GM-CSF? |
| WHIM | 193670 | CXCR4 | AD | — | Plerixafor |
| Genetic recombination? |
| Disease . | MIM # . | Gene . | Inheritance . | Predisposition to MDS/AML . | Novel therapeutic ideas . |
|---|---|---|---|---|---|
| SCN1 | 202700 | ELANE | AD | + | NE inhibitors? |
| Proteasome inhibitor? | |||||
| SCN2 | 600871 | GFI1 | AD | + | Histone modifiers? |
| SCN3 | 605998 | HAX1 | AR | + | Gene replacement in HSC? |
| SCN4 | 611045 | G6PC3 | AR | ? | ? |
| SCN5 | 610035 | VPS45A | AR | ? | ? |
| SCN6 | 616012 | JAGN1 | AR | + | GM-CSF? |
| SCN7 | 138971 | CSF3R | AR | — | GM-CSF? |
| WHIM | 193670 | CXCR4 | AD | — | Plerixafor |
| Genetic recombination? |
AD, autosomal dominant; AML, acute myeloid leukemia; AR, autosomal recessive; MDS, myelodysplastic syndrome; MIM, Mendelian inheritance in man.