Table 3. Intracellular SH2D1A expression... | American Society of Hematology

Table 3.

Intracellular SH2D1A expression in family members

	Age/sex	CD8⁺ T cells, %^*	CD56⁺ T cells, %†	NK cells, %‡	Nucleotide change	Predicted effect
Mother of P1	33 y/F	37.2	69.6	23.0	132(-2)a > c/normal	Preventing normal splicing of exon 2/normal
Mother of P5	32 y/F	14.2	30.8	4.8	191G > A/normal	Trp64Stop/normal
Sister of P5	9 m/F	16.6	N/A	17.8	191G > A/347(-30)del5	Trp64Stop/normal
Father of P5	37 y/M	52.3	70.8	35.0	347(-30)del5	Normal

	Age/sex	CD8⁺ T cells, %^*	CD56⁺ T cells, %†	NK cells, %‡	Nucleotide change	Predicted effect
Mother of P1	33 y/F	37.2	69.6	23.0	132(-2)a > c/normal	Preventing normal splicing of exon 2/normal
Mother of P5	32 y/F	14.2	30.8	4.8	191G > A/normal	Trp64Stop/normal
Sister of P5	9 m/F	16.6	N/A	17.8	191G > A/347(-30)del5	Trp64Stop/normal
Father of P5	37 y/M	52.3	70.8	35.0	347(-30)del5	Normal

Normal range 65 ± 22.

Normal range 73 ± 28.

Normal range 48 ± 22.