Table 4. Patients with clinical symptoms... | American Society of Hematology

Table 4.

Patients with clinical symptoms consistent with XLP without mutations in SH2D1A

Patient	Age	Diagnosis	CD8⁺ T cells, %^*	CD56⁺ T cells, %†	NK cells, %‡	Intracellular perforin expression	PRF1 mutation
P11	3 m	EBV-HLH	46.3	N/A	20.2	Increased	No mutation
P12	1 y	EBV-HLH	86.5	56.7	68.5	Normal	No mutation
P13	1 y	HLH	44.2	N/A	26.5	Normal	ND
P14	3 y	EBV-HLH	71.9	69.8	52.5	Normal	No mutation
P15	5 y	HLH	64.1	52.7	24.2	Decreased	Hetero272C > T
P16	8 y	HLH/ALL	27.3	N/A	41.8	Decreased in CD8 T	Hetero272C > T
P17	9 y	EBV-HLH	40.0	51.8	40.6	Normal	No mutation
P18	9 y	HLH	35.1	87.7	42.4	Normal	ND
P19	11 y	EBV-HLH	92.9	54.6	45.5	Normal	ND
P20	13 y	EBV-HLH	60.4	61.7	65.5	Increased	No mutation
P21	22 y	EBV-HLH	56.1	73.9	35.8	Normal	No mutation

Patient	Age	Diagnosis	CD8⁺ T cells, %^*	CD56⁺ T cells, %†	NK cells, %‡	Intracellular perforin expression	PRF1 mutation
P11	3 m	EBV-HLH	46.3	N/A	20.2	Increased	No mutation
P12	1 y	EBV-HLH	86.5	56.7	68.5	Normal	No mutation
P13	1 y	HLH	44.2	N/A	26.5	Normal	ND
P14	3 y	EBV-HLH	71.9	69.8	52.5	Normal	No mutation
P15	5 y	HLH	64.1	52.7	24.2	Decreased	Hetero272C > T
P16	8 y	HLH/ALL	27.3	N/A	41.8	Decreased in CD8 T	Hetero272C > T
P17	9 y	EBV-HLH	40.0	51.8	40.6	Normal	No mutation
P18	9 y	HLH	35.1	87.7	42.4	Normal	ND
P19	11 y	EBV-HLH	92.9	54.6	45.5	Normal	ND
P20	13 y	EBV-HLH	60.4	61.7	65.5	Increased	No mutation
P21	22 y	EBV-HLH	56.1	73.9	35.8	Normal	No mutation

N/A indicates not available; ND, not done.

Normal range 65 ± 22.

Normal range 73 ± 28.

Normal range 48 ± 22.