Table 6 Expression of mutant NEMO in... | American Society of Hematology

Table 6

Expression of mutant NEMO in CD3-positive cells and PHA blasts

Sample	Mutations	Analysis	Subtype	Mutant type, % (proportion)
Mother of patient 3	D311E	FACS	CD3	13
		FACS	PHA blast	47
		Subcloning	CD3	22 (6/27)
		Subcloning	PHA blast	48 (11/23)
Mother of patient 4	A169P	Subcloning	CD3	52 (11/21)
Mother of patient 4	A169P	Subcloning	PHA blast	18 (9/49)
Mother of patient 8	Q348X	Subcloning	CD3	0 (0/26)
Mother of patient 8	Q348X	Subcloning	PHA blast	0 (0/21)
Mother of patient 10	1167insC	Subcloning	CD3	18 (7/39)
Mother of patient 10	1167insC	Subcloning	PHA blast	9 (4/43)
Patient 2	Duplication	FACS	CD3	73
Patient 2	Duplication	FACS	PHA blast	93
Patient 4	A169P	Subcloning	CD3	79 (19/24)
Patient 4	A169P	Subcloning	PHA blast	100 (37/37)
Patient 8	Q348X	Subcloning	CD3	56 (18/32)
Patient 8	Q348X	Subcloning	PHA blast	100 (16/16)
Patient 9	R175P	Subcloning	CD3	87 (34/39)
Patient 9	R175P	Subcloning	PHA blast	0 (0/28)

Sample	Mutations	Analysis	Subtype	Mutant type, % (proportion)
Mother of patient 3	D311E	FACS	CD3	13
		FACS	PHA blast	47
		Subcloning	CD3	22 (6/27)
		Subcloning	PHA blast	48 (11/23)
Mother of patient 4	A169P	Subcloning	CD3	52 (11/21)
Mother of patient 4	A169P	Subcloning	PHA blast	18 (9/49)
Mother of patient 8	Q348X	Subcloning	CD3	0 (0/26)
Mother of patient 8	Q348X	Subcloning	PHA blast	0 (0/21)
Mother of patient 10	1167insC	Subcloning	CD3	18 (7/39)
Mother of patient 10	1167insC	Subcloning	PHA blast	9 (4/43)
Patient 2	Duplication	FACS	CD3	73
Patient 2	Duplication	FACS	PHA blast	93
Patient 4	A169P	Subcloning	CD3	79 (19/24)
Patient 4	A169P	Subcloning	PHA blast	100 (37/37)
Patient 8	Q348X	Subcloning	CD3	56 (18/32)
Patient 8	Q348X	Subcloning	PHA blast	100 (16/16)
Patient 9	R175P	Subcloning	CD3	87 (34/39)
Patient 9	R175P	Subcloning	PHA blast	0 (0/28)

PHA blasts were obtained by incubating PBMCs with PHA and soluble IL-2 for 7 days. Data are shown as either the percentages of NEMO^normal cells, as assessed by flow cytometry, or as the ratio of clones containing wild-type NEMO to the total number of clones, as analyzed by subcloning and sequencing analysis.

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