Table 2.

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

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.