Clinical characteristics and laboratory profiles of patients carrying the PRF1 mutations
| Patient . | Mutation . | Age, y . | Race or ethnic group* . | Hemoglobin level, g/dL . | Absolute neutrophil count, × 10−3/mm3 . | Platelet count, 10−3/mm3 . | Bone marrow cellularity, % . | Hemophagocytosis . | Follow-up . |
|---|---|---|---|---|---|---|---|---|---|
| A | A91V/H300H | 31 | White | 8.0 | 25 | 5 000 | 5 | Yes | No response to immunosuppression |
| B | A91V/H300H | 77 | White | 8.8 | 95 | 11 000 | 15 | Yes | Relapse; CsA dependent |
| C | A91V/H300H | 78 | White | 10.0 | 940 | 7 000 | 10 | No | Transient response; relapse; CsA dependent |
| D | S388I/A274A | 33 | Hispanic | 5.8 | 950 | 9 000 | 10 | Yes | No response to immunosuppression |
| E | R4H | 21 | African American | 4.1 | 780 | 6 000 | 5 | Yes | No response to immunosuppression |
| Patient . | Mutation . | Age, y . | Race or ethnic group* . | Hemoglobin level, g/dL . | Absolute neutrophil count, × 10−3/mm3 . | Platelet count, 10−3/mm3 . | Bone marrow cellularity, % . | Hemophagocytosis . | Follow-up . |
|---|---|---|---|---|---|---|---|---|---|
| A | A91V/H300H | 31 | White | 8.0 | 25 | 5 000 | 5 | Yes | No response to immunosuppression |
| B | A91V/H300H | 77 | White | 8.8 | 95 | 11 000 | 15 | Yes | Relapse; CsA dependent |
| C | A91V/H300H | 78 | White | 10.0 | 940 | 7 000 | 10 | No | Transient response; relapse; CsA dependent |
| D | S388I/A274A | 33 | Hispanic | 5.8 | 950 | 9 000 | 10 | Yes | No response to immunosuppression |
| E | R4H | 21 | African American | 4.1 | 780 | 6 000 | 5 | Yes | No response to immunosuppression |
The peripheral blood and bone marrow counts at diagnosis (Document SI) are shown. All patients were men with a diagnosis of severe aplastic anemic. CsA indicates cyclosporine A.
Race or ethnic group was self-reported by the patients.