Table 2.

Likely Disease-Causing Variants Detected in the Patients

Patient	Gene	Variant	Aa change	Type	Hom/Het	Sanger validation
1	RAG1	c.1307C > A	p.Thr436Asn	Missense	Het	Yes
1	RAG1	c.2005G > A	p.Glu669Lys	Missense	Het	Yes
2	RAG2	c.581C > A	p.Ser194Ter	Nonsense	Hom	Yes
3	JAK3	c.2134G > A	p.Gly712Ser	Missense	Hom	Yes
4	RFXANK	c.634C > T	p.Arg212Ter	Nonsense	Hom	Yes
7	CYBA	c.58 + 4_58 + 7delAGTG		Deletion	Hom	Yes

Aa, amino acid; Hom, homozygous; Het, heterozygous.