Table 3.

Molecular findings in T^−/+B⁺NK⁻SCID.

Pt No.	Defective gene	Nucleotide change	Protein change	Mutation type	Allele	Carrier status		References	Method
						Mother	Father
P7	IL2RG	c.202 G>A	p. E68K	Missense	Hemizygous	Carrier	NA	(13)	Sanger
P8	IL2RG	c.202 G>A	p. E68K	Missense	Hemizygous	Carrier	NA	(13)	Sanger
P10	IL2RG	c.943 A>T	p. K315X	Nonsense	Hemizygous	Carrier	NA	This study	Sanger
P12	JAK3*	c.2072T>A	p. V691E	Missense	Homozygous	Carrier	Carrier	This study	NGS
P15	JAK3	c.2978G>A	p. W993X	Nonsense	Homozygous	Carrier	Carrier	This study	NGS
P25	PRKDC	c.9862C>T c.11588G>A	p. R3288W, p. R3863H	Missense Missense	Compound Heterozygous	ND	ND	This study	NGS
P29	JAK3	c.2488A>T	p. K830X	Nonsense	Homozygous	Carrier	Carrier	This study	NGS
P36	JAK3	c.595 C>T, c.2805+5G>A	p. R199C 5′proximal splice site	Missense, Splice site mutation	Compound Heterozygous	Carrier	Carrier	Reported This study	NGS
P37	IL2RG	c.676C>T	p. R226C	Missense	Hemizygous	ND	ND	(13)	NGS
P39	JAK3	c.862-2A>G, c.442 G>A	3′ Splice site Intron 6; p. G148R	Splice site Missense	Compound Heterozygous	Carrier	Carrier	This study, This study	NGS
P40	JAK3	c.2243delA	p. K748SfsTer8	Deletion	Homozygous	Carrier	Carrier	This study	NGS
P45	IL2RG	c.3 G>A	p. M1I	Frameshift	Hemizygous	ND	ND	(13)	Sanger
P31	IL7RA	c.437_438delTT	p. F146CfsTer5	Frameshift	Homozygous	Carrier	Carrier	This study	Sanger
P41	IL2RG	c.53delT	p. L18RfsTer6	Frameshift	Hemizygous	ND	ND	This study	Sanger
P44	IL2RG	c.979G>A	p. E327K	Missense	Hemizygous	Carrier	ND	This study	Sanger
P52	JAK3	c.2350 G>C	p. R784N	Missense	Homozygous	Carrier	Carrier	(14)	NGS
P54	JAK3	c.1351 C>T	p.R451X	Nonsense	Homozygous	Carrier	Carrier	This study	NGS
P55	JAK3	c.307 C>T c.421-6 C>T	p.R103C; 3′splice variant	Missense, Splice site	Compound Heterozygous	ND	ND	(15) This study	NGS

IL2RG, Interleukin 2 receptor gamma chain; JAK3, Janus Kinase 3; IL7RA, Interleukin 7 receptor alpha;

^*P12 was identified with the help of WES.