Table 2 Overview of patients in group 2... | American Society of Hematology

Table 2

Overview of patients in group 2 with exon 15 splice-site mutations on ≥ 1 allele

Patient	Consanguinity	Ethnic origin	Age at diagnosis, y	Mutation	Exon	Protein	NK degranulation/IL-2 reconstitution	NK cytotoxicity	CTL cytotoxicity
2290*		German	1.3	c.260delT	5	p.Leu87ArgfsX32
				c.1247-1G > C	15	splice site
0870*†		German	2.3	c.626T > C	8	p.Leu209Pro	Eq (5.05%)/	Abn	Normal
				c.1247-1G > C	15	splice site	normal
2291*		Czech	1.3	c.706delG	9	p.Ala236GlnfsX24
				c.1247-1G > C	15	splice site
0879*†‡§	+	Turkish	2.4	c.1247-1G > C	15	splice site	Eq (6.8%)/ND	Normal	Normal
0879a‡§	+	Turkish	1.3	c.1247-1G > C	15	splice site
A_603	+	Turkish	1.6	c.1247-1G > C	15	splice site
A_721†	+	Turkish	9	c.1247-1G > C	15	splice site	Abn (4.1%)/normal	ND	Normal
2289*†		German	3	c.1247-1G > C	15	splice site	Abn (0.06%)/abn	Abn	Normal
A_213	−	German	14	c.1247-1G > C	15	splice site
				c.1621G > A	18	p.Gly541Ser
A_726†	−	German	7	c.1247-1G > C	15	splice site	Abn (2.4%)/	ND	Normal
				c.1621G > A	18	p.Gly541Ser	Normal
A_770	−	German	19	c.1247-1G > C	15	splice site	Abn (3.28%)/	Abn	Normal
				c.1621G > A	18	p.Gly541Ser	Normal
A_771	−	German/Indonesian	6	c.1247-1G > C	15	splice site	Abn (0.3%)/	Abn	Normal
				c.1724_1729delGCTTCC¶	19	p.Arg575_Phe576del¶	Abnormal
A_711†‡	−	German	13	c.1356 + 1G > A	15	splice site	Abn (0.5%)/	ND	Normal
				c.1621G > A	18	p.Gly541Ser	Eq

Patient	Consanguinity	Ethnic origin	Age at diagnosis, y	Mutation	Exon	Protein	NK degranulation/IL-2 reconstitution	NK cytotoxicity	CTL cytotoxicity
2290*		German	1.3	c.260delT	5	p.Leu87ArgfsX32
				c.1247-1G > C	15	splice site
0870*†		German	2.3	c.626T > C	8	p.Leu209Pro	Eq (5.05%)/	Abn	Normal
				c.1247-1G > C	15	splice site	normal
2291*		Czech	1.3	c.706delG	9	p.Ala236GlnfsX24
				c.1247-1G > C	15	splice site
0879*†‡§	+	Turkish	2.4	c.1247-1G > C	15	splice site	Eq (6.8%)/ND	Normal	Normal
0879a‡§	+	Turkish	1.3	c.1247-1G > C	15	splice site
A_603	+	Turkish	1.6	c.1247-1G > C	15	splice site
A_721†	+	Turkish	9	c.1247-1G > C	15	splice site	Abn (4.1%)/normal	ND	Normal
2289*†		German	3	c.1247-1G > C	15	splice site	Abn (0.06%)/abn	Abn	Normal
A_213	−	German	14	c.1247-1G > C	15	splice site
				c.1621G > A	18	p.Gly541Ser
A_726†	−	German	7	c.1247-1G > C	15	splice site	Abn (2.4%)/	ND	Normal
				c.1621G > A	18	p.Gly541Ser	Normal
A_770	−	German	19	c.1247-1G > C	15	splice site	Abn (3.28%)/	Abn	Normal
				c.1621G > A	18	p.Gly541Ser	Normal
A_771	−	German/Indonesian	6	c.1247-1G > C	15	splice site	Abn (0.3%)/	Abn	Normal
				c.1724_1729delGCTTCC¶	19	p.Arg575_Phe576del¶	Abnormal
A_711†‡	−	German	13	c.1356 + 1G > A	15	splice site	Abn (0.5%)/	ND	Normal
				c.1621G > A	18	p.Gly541Ser	Eq

Eq indicates equivocal; abn, abnormal; and ND, not done.

Patients already published by zur Stadt et al.²⁰

Patients already published by Rohr et al.²⁷

Patients already published by Beutel et al.³¹

Siblings or cousins.

Novel mutations.