Patient | Gender | Mutation (RPS19) | Steroid Response | Follow-up | Congenital Abnormalities |
---|
1 | M | p.Arg62Trp | R/Ia | BMT/Reme | yes |
2 | F | p.Arg101His | Rb | TRT/Remf | no |
3 | F | c1-1G>A | NRc, d | BMT/Rem | no |
4 | M | c.del58G | R | SDg | no |
- a R/I responsive and subsequent interruption of therapy
- b R responsive
- c this patient was transfusion dependent
- d NR non responsive
- e BMT/Rem remission after bone marrow transplant
- f TRT/Rem remission after treatment
- g SD steroid dependent