Table 1.

Severe combined immunodeficiency patients clinical and genetic data.

Patient	Major infection	Diagnosis	Mutation	Outcome
P1	None	DCLRE1Ca	c.1299_1306dup-AGGATGCT (homozygous)	A/W, Post-BMT
P2	None	DCLRE1Ca	c.1299_1306dup-AGGATGCT (homozygous)	A/W, Post-BMT
P3	None	DCLRE1Ca	c.1299_1306dup-AGGATGCT (homozygous)	A/W, Post-BMT
P4	None	IL7Rαb	c.120C > G; p. F40L (homozygous)	A/W, No-BMT
P5	None	DCLRE1Cc	del. ex1-3 (homozygous)	A/W, Post-BMT
P6	Yes	IL7Rαb	c.120C > G; p. F40L (homozygous)	A/W, Post-BMT
P7	None	Complete DGS	Unknown	Deceased
P8	None	RMRPd	ins.17bp TIS-4 TCTGTGAAGCTGAGGAC TIS + 239 C > T	A/W, Post-BMT

DGS, DiGeorge syndrome; A/W, alive and well; BMT, bone marrow transplant; RMRP, RNA component of mitochondrial RNA processing endoribonuclease, causative gene for Cartilage-Hair Hypoplasia; TIS, transcription initiation site.

^aAccession no. NM_001033855.

^bAccession no. Chromosome 10, NC_000010.

^cAccession no. NM_002185.

^dAccession no. NG_017041.