Table 4.
Results of prospective newborn screening programs for primary immunodeficiency
| Region | Screening period | Screening strategy | Number of newborns screened | Primary immunodeficiency cases identified | References |
|---|---|---|---|---|---|
| USA (10 states + Navajo region) | January 2008–July 2013 (5.5 years) | TREC | 3,030,083 | SCID (n = 52) - Typical SCID (n = 42) - IL2RG (n = 9) - IL7RA (n = 6) - ADA (n = 5) - RAG1 (n = 4) - JAK3 (n = 3) - DCLRE1C (n = 1) - RAG2 (n = 1) - CD3D (n = 1) - TC7A (n = 1) - Pallister-Killian syndrome; tetrasomy 12p (n = 1) - Molecular defect unknown (n = 6) - Genetic testing incomplete (n = 4) - Leaky SCID (n = 10) - RAG1 (n = 4) - RMRP (n = 2) - IL2RG (n = 1) - DCLRE1C (n = 1) - Molecular defect unknown (n = 2) |
Kwan et al. 2014 [27] |
| Taiwan | 2010–2017 (78 months) | TREC | 920,398 | SCID (n = 7) - IL2RG (n = 3) - RAG1 (n = 1) - Molecular defect unknown (n = 3) SCID variant, molecular defect unknown (n = 8) EDA-HT (n = 1) |
Chien et al. 2017 [28] |
| Sweden (Stockholm county) | 15 November 2013–14 November (3 years) | TREC/KREC | 89,462 | SCID (n = 2) - Artemis deficiency) (n = 1) - ADA deficiency (n = 1) Ataxia telangiectasia (n = 1) CID, molecular defect unknown (n = 2) |
Barbaro et al. 2016 [29] Zetterström et al. 2017 [30] |
| Israel | 1 October 2015–30 April 2017 (18 months) | TREC | 290,864 | SCID (n = 13) - Typical SCID (n = 10) - DCLRE1C (n = 3) - IL7RA (n = 2) - RMRP (n = 1) - Ligase 4 deficiency (n = 1) - Complete DiGeorge Syndrome (n = 1) - Molecular defect unknown (n = 2) - Leaky SCID (n = 3) - DCLRE1C (n = 2) - MHC2 deficiency/RFX5 (n = 1) Undefined PID (n = 6) |
Rechavi et al. 2017 [39] Rechavi et al. (personal communation) |
TREC T cell receptor excision circles, KREC kappa recombining excision circles, SCID severe combined immunodeficiency, CID combined immunodeficiency, EDA-HT X-linked recessive anhidrotic ectodermal dysplasia-associated immunodeficiency