Table 1 Overview of patients in group 1... | American Society of Hematology

Table 1

Overview of patients in group 1 without exon 15 splice-site mutations

Patient	Consanguinity	Ethnic origin	Age at diagnosis	Mutation	Exon	Protein	NK degranulation/IL-2 reconstitution	NK cytotoxicity	CTL cytotoxicity
A_376	−	Swiss	2 mo	c.87 + 2T > C*	2	Splice site*
				c.1621G > A	18	p.Gly541Ser
A_724	+	Turkish	2 mo	c.279delG*	5	p.Thr94ProfsX25*	Abn (2.7%)/abn	ND	Abn
A_032	−	German	1 mo	c.310A > T*	5	p.Ile104Phe
				c.1621G > A	18	p.Gly541Ser
A_784a†	+	Turkish	2 mo	c.502_dupC*	7	p.Gln168ProFsX71*	Abn (0.82%)/eq	ND	Normal
A_784b†	+	Turkish	11 mo	c.502_dupC*	7	p.Gln168ProFsX71*	Abn (0.7%)/abn	ND	Abn
A_784c†	+	Turkish	1 mo	c.502_dupC*	7	p.Gln168ProFsX71*
1155‡	+	Turkish	2 mo	c.693_695delGAT	9	p.Ile232del
1945‡	+	Turkish	2 mo	c.693_695delGAT	9	p.Ile232del
0884‡	+	Turkish	2 mo	c.875G > A	10	p.Arg292His
1948-1†‡	+	Turkish	3 mo	c.1214G > A	14	p.Arg405Glu
1948-2†	+	Turkish	2 mo	c.1214G > A	14	p.Arg405Glu
1949‡	+	Turkish	9 mo	c.1213C > T	14	p.Arg405Trp
1976-1†‡	+	United Arab Emirates	6 mo	c.1430C > T	16	p.Pro477Leu	Eq (5.3%)/nd	ND	ND
1976-2†	+	United Arab Emirates	2 mo	c.1430C > T	16	p.Pro477Leu	Abn (4.5%)/nd	Reduced	Abn
1875†‡	+	Saudi Arab	4 mo	c.1430C > T	16	p.Pro477Leu
1875b†	+	Saudi Arab	1 mo	c.1430C > T	16	p.Pro477Leu
A_679	+	United Arab Emirates	1 mo	c.1430C > T	16	p.Pro477Leu	Abn (0.5%)/eq	Abn	ND
A_244a†§		Austrian	2 mo	c.1696 + 1G > A*	18	Splice site*
A_244b†§		Austrian	5 d	c.1696 + 1G > A*	18	Splice site*
A_474	−	Danish	2 mo	c.1601C > T*	18	p.Leu534Pro*
				c.1621G > A	18	p.Gly541Ser
A_142a†	−	Sri Lanka	3 d	c.1697G > A*	19	p.Gly566Asp*
A_142b†	−	Sri Lanka	2 mo	Not tested
A_751a†	+	Lebanese	2 mo	c.1727delT*	19	p.Phe576SerfsX4*	Abn (0.89%)/abn	ND	normal
A_751b†	+	Lebanese	1 mo	c.1727delT*	19	p.Phe576SerfsX4*	Abn (0.17%)/nd	ND	ND

Patient	Consanguinity	Ethnic origin	Age at diagnosis	Mutation	Exon	Protein	NK degranulation/IL-2 reconstitution	NK cytotoxicity	CTL cytotoxicity
A_376	−	Swiss	2 mo	c.87 + 2T > C*	2	Splice site*
				c.1621G > A	18	p.Gly541Ser
A_724	+	Turkish	2 mo	c.279delG*	5	p.Thr94ProfsX25*	Abn (2.7%)/abn	ND	Abn
A_032	−	German	1 mo	c.310A > T*	5	p.Ile104Phe
				c.1621G > A	18	p.Gly541Ser
A_784a†	+	Turkish	2 mo	c.502_dupC*	7	p.Gln168ProFsX71*	Abn (0.82%)/eq	ND	Normal
A_784b†	+	Turkish	11 mo	c.502_dupC*	7	p.Gln168ProFsX71*	Abn (0.7%)/abn	ND	Abn
A_784c†	+	Turkish	1 mo	c.502_dupC*	7	p.Gln168ProFsX71*
1155‡	+	Turkish	2 mo	c.693_695delGAT	9	p.Ile232del
1945‡	+	Turkish	2 mo	c.693_695delGAT	9	p.Ile232del
0884‡	+	Turkish	2 mo	c.875G > A	10	p.Arg292His
1948-1†‡	+	Turkish	3 mo	c.1214G > A	14	p.Arg405Glu
1948-2†	+	Turkish	2 mo	c.1214G > A	14	p.Arg405Glu
1949‡	+	Turkish	9 mo	c.1213C > T	14	p.Arg405Trp
1976-1†‡	+	United Arab Emirates	6 mo	c.1430C > T	16	p.Pro477Leu	Eq (5.3%)/nd	ND	ND
1976-2†	+	United Arab Emirates	2 mo	c.1430C > T	16	p.Pro477Leu	Abn (4.5%)/nd	Reduced	Abn
1875†‡	+	Saudi Arab	4 mo	c.1430C > T	16	p.Pro477Leu
1875b†	+	Saudi Arab	1 mo	c.1430C > T	16	p.Pro477Leu
A_679	+	United Arab Emirates	1 mo	c.1430C > T	16	p.Pro477Leu	Abn (0.5%)/eq	Abn	ND
A_244a†§		Austrian	2 mo	c.1696 + 1G > A*	18	Splice site*
A_244b†§		Austrian	5 d	c.1696 + 1G > A*	18	Splice site*
A_474	−	Danish	2 mo	c.1601C > T*	18	p.Leu534Pro*
				c.1621G > A	18	p.Gly541Ser
A_142a†	−	Sri Lanka	3 d	c.1697G > A*	19	p.Gly566Asp*
A_142b†	−	Sri Lanka	2 mo	Not tested
A_751a†	+	Lebanese	2 mo	c.1727delT*	19	p.Phe576SerfsX4*	Abn (0.89%)/abn	ND	normal
A_751b†	+	Lebanese	1 mo	c.1727delT*	19	p.Phe576SerfsX4*	Abn (0.17%)/nd	ND	ND

Abn indicates abnormal; ND, not done; and eq, equivocal.

Novel mutations.

†

Siblings or cousins.

‡

Patients already published by zur Stadt et al.²⁰

Patients already published by Matthes-Martin et al in 2000²⁹ and by Kapelari et al.³⁰

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