Table 3.

Retrospective TRECs and NGS testing in known PIDs using DNA from the original newborn screening DBS.

Sample ID	Individuals with known SCID or severe T-cell deficiency									Other PIDs
	KID_1	KID_2	KID_3	KID_4	KID_5	KID_6	KID_7	KID_8	KID_9	KID_10	KID_11
Year	2012	2010	2010	2015	2012	2014	2015	2006	2009	2009	2012
Gender	Male	Female	Female	Female	Female	Male	Male	Female	Male	Male	Female
GA w	37	34	38,5	42	40	42	39	38	39	40	38
BW g	2,954	1,999	2,618	3,360	4,135	4,420	2,484	NA	3,445	3,775	2,950
TRECs/μl	0	0	0	0	11	0	0	0	0	25.5	60
Gene	IL2RG	LIG4	IL7R	ADA	PGM3	JAK3	TBX1	TBX1	TBX1	IKZF1	RECQL4
SNV/CNV	c.[924+5G>A]; [0]	c.[1341G>T]; [482delC]	c.[707-2A>G] HOM	c.[7C>T] HOM	c.[737A>G] HOM	c.[1837C>T]; [1695C>A]	22q11.21 del	22q11.21 del	22q11.21 del	c.1618388_589 +2308del (16.8 kb del exons 4-5)	c.[2269C>T]; ND (22)
Protein	Splice defect	p.Trp447Cys; p.Ala161Valfs*6	Splice defect	p.Gln3*	p.Ala246Gly	p.Arg613*; p.Cys565*	loss	loss	loss	Inframe deletion	p.Gln757*
RefSeq	NM_ 000206.2	NM_ 002312.3	NM_ 002185.3	NM_ 000022.2	NM_ 015599.2	NM_ 000215.3	NM_ 080647.1	NM_ 080647.1	NM_ 080647.1	NM_ 006060.5	NM_ 004260.3
Panel	PIDv1	PIDv1	PIDv1	PIDv2	PIDv2	PIDv1	PIDv2	PIDv2	PIDv2	PIDv2	PIDv1 and PIDv2

BW, Birth weight; CNV, Copy number variation; DBS, dried blood spot; del, deletion; g, gram; GA, Gestational age; HOM, Homozygous; HGNC, The HUGO Gene Nomenclature Committee; NBS, Newborn screening; ND, Not detected; NGS, Next generation sequencing; PIDs, Primary immunodeficiencies; PIDv2, Primary immunodeficiency research panel version 2; RefSeq, The National Center for Biotechnology Information Reference Database; SCID, Severe combined immunodeficiency; SNV, Single nucleotide variant; TREC, T-cell receptor excision circles; w, weeks.

Resources: Gene names according to HGNC, https://www.genenames.org/; Gene variant nomenclature according to the HGVS recommendations, http://www.HGVS.org/varnomen.

Extended information available in Supplemental Table S4.