Table 1.
New SCIDs and severe T cell deficiencies identified on newborn screening.
| Patient ID | Pilot project | National screening | |||||||
|---|---|---|---|---|---|---|---|---|---|
| SCID_1 | SCID_2 | SCID_3 | SCID_4 | SCID_5 | SCID_6 | SCID_7 | CID_1 | CID_2 | |
| Symptoms at time of diagnosis | Healthy | Healthy | Skeletal dysplasia, total Hirschprung | Healthy | Healthy | Microcephaly SGA | Healthy | Healthy, Thymic aplasia | Hydrops fetalis, congenital, heart disease, arthrogryposis |
| Gender | Male | Male | Female | Male | Male | Female | Male | Female | Male |
| GA w | 42 | 41 | 37 | 40 | 39 | 40 | Male | 41 | 28 |
| BW g | 3,592 | 3,588 | 2,152 | 3,618 | 2,515 | 2,855 | 41 | 4,065 | 1,330 |
| Mean TRECs/μl | 0.48 | 9.7 | 0 | 0 | 2 | 1.2 | 0 | 11.3 | 2.12 |
| TREC results avaliable | Day 16 | Day 12 | Day 11 | Day 4 | Day 13 | Day 6 | Day 4 | Day 8 | Day 4 |
| Age at molecular diagnosis | Day 22 | Day 17 | After death | Day 8 | Day 15 | Day 8 | Day 6 | NA | Prenatal test |
| Gene | IL2RG | RAG2 | RMRP | DCLRE1C | JAK3 | NBN | IL2RG | none | Trisomy 21 |
| SNV/CNV | c.[359dupA];[0] | c.[1367C>T] HOM | n.[71A>G] HOM | c.[82C>G] HOM | c.[1767C>T]; [2077C>A] | c.[657_661del] HOM | c.[371T>C];[0] | No finding | 47, XY, +21 |
| protein | p.Glu121Glyfs*47 | p.Ala456Val | NA | p.Ala28Pro | p.(Gly589=); (Pro693Thr) | p.Lys219Asnfs*16 | p.Leu124Pro | NA | NA |
| Refseq | NM_000206.2 | NM_000536.3 | NR_003051.3 | NM_001033855.2 | NM_000215.3 | NM_002485.4 | NM_000206.2 | NA | NA |
| Methods | PIDv2 gene panel |
PIDv2 gene panel |
PIDv2 gene panel |
NBSv2 gene panel |
NBSv2 gene panel |
NBSv2 gene panel |
NBSv2 gene panel |
NBSv2 and PIDv2, clinical WES trio and aCGH |
Prenatal: Trisomy test and aCGH Postnatal: NBSv2 and clinical WES |
| Outcome | HSCT, Successful | HSCT, Successful | Deceased 1 month old |
HSCT, Successful | HSCT, Successful | Antimicrobial prophylaxis, HSCT considered | HSCT, Successful | Clinical follow-up only, thymus transplantation considered | Deceased 1 month old |
aCGH, array comparative genomic hybridization chromosomal/chromosomal microarray; BW, Birth weight; CNV, Copy number variation; g, gram; GA, Gestational age; NA, Not applicable; NBS, Newborn screening; NBSv2, Newborn screening gene panel version 2; PIDv2, Primary immunodeficiency research panel version 2; PID, Primary immunodeficiency; RefSeq, The National Center for Biotechnology Information Reference Database; SCID, Severe combined immunodeficiency; SNV, Single nucleotide variant; TREC, T-cell receptor excision circles; Trio-test; testing the child and both parents in comparison; WES, whole exome sequencing; w, week.