Table 1.

Application of TREC and/or KREC analysis in newborn screening to identify immunodeficient patients with various types of genetic defects that result in extremely low total T- and/or B-cell numbers.

Disease	Genetic defect	Analysis		References
		TREC	KREC
SCID	IL2RG	+	−	Chan and Puck (2005), Gerstel-Thompson et al. (2010), Morinishi et al. (2009)
	IL7RA	+*	−	Gerstel-Thompson et al. (2010)
	JAK3	+	−	Chan and Puck (2005), Hale et al. (2010), Morinishi et al. (2009)
	RAG1	+	+*	Morinishi et al. (2009)
	RAG2	+*	+*
	Artemis (DCLRE1C)	+*	+*
	LIG4	+	+*	Morinishi et al. (2009)
	DNA-PKcs	+*	+*
	ADA	+	+*	Gerstel-Thompson et al. (2010), Morinishi et al. (2009)
	PNP	+	−	Gerstel-Thompson et al. (2010)
	AK2	+*	+*
	CD3E	+*	−
	CD3D	+*	−
	CD3G	+*	−
	CD3Z	+*	−
	CD45	+*	−
	CORO1A	+*	−
DiGeorge syndrome	22q11.2 deletion	+	−	Routes et al. (2009)
Agammaglobulinemia	BTK	−	+	Nakagawa et al. (2011)
	IGHM	−	+*
	BLNK	−	+*
	CD79A	−	+*
	CD79B	−	+*
	L14.1	−	+*

+, Analysis will yield aberrant result; −, analysis will not reveal aberrancies. *Expected based on immunological phenotype of the patient, but not yet demonstrated in dried blood spots.