History and Current Status of Newborn Screening for Severe Combined Immunodeficiency

Overview

Journal Semin Perinatol

Specialty Gynecology & Obstetrics

Date 2015 May 5

PMID 25937517

Citations 51

Authors

Antonia Kwan

Jennifer M Puck

Affiliations

Soon will be listed here.

Abstract

The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period, while asymptomatic, permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and it is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions.

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References

Bolotin E, Annett G, Parkman R, Weinberg K . Serum levels of IL-7 in bone marrow transplant recipients: relationship to clinical characteristics and lymphocyte count. Bone Marrow Transplant. 1999; 23(8):783-8. DOI: 10.1038/sj.bmt.1701655. View

Hazenberg M, Otto S, Cohen Stuart J, Verschuren M, Borleffs J, Boucher C . Increased cell division but not thymic dysfunction rapidly affects the T-cell receptor excision circle content of the naive T cell population in HIV-1 infection. Nat Med. 2000; 6(9):1036-42. DOI: 10.1038/79549. View

Andresen B, Dobrowolski S, OReilly L, Muenzer J, McCandless S, Frazier D . Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that.... Am J Hum Genet. 2001; 68(6):1408-18. PMC: 1226127. DOI: 10.1086/320602. View

Myers L, Patel D, Puck J, Buckley R . Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002; 99(3):872-8. DOI: 10.1182/blood.v99.3.872. View

Morton D, Morton C, Strauss K, Robinson D, Puffenberger E, Hendrickson C . Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am J Med Genet C Semin Med Genet. 2003; 121C(1):5-17. DOI: 10.1002/ajmg.c.20002. View

Centerwall W, CHINNOCK R, PUSAVAT A . Phenylketonuria: screening programs and testing methods. Am J Public Health Nations Health. 1960; 50:1667-77. PMC: 1373532. DOI: 10.2105/ajph.50.11.1667. View

Kalman L, Lindegren M, Kobrynski L, Vogt R, Hannon H, Howard J . Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet Med. 2004; 6(1):16-26. DOI: 10.1097/01.GIM.0000105752.80592.A3. View

Buckley R . Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004; 22:625-55. DOI: 10.1146/annurev.immunol.22.012703.104614. View

Rao K, Amrolia P, Jones A, Cale C, Naik P, King D . Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Blood. 2004; 105(2):879-85. DOI: 10.1182/blood-2004-03-0960. View

10.

HALDANE J . The rate of spontaneous mutation of a human gene. 1935. J Genet. 2005; 83(3):235-44. DOI: 10.1007/BF02717892. View

11.

Chan K, Puck J . Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005; 115(2):391-8. DOI: 10.1016/j.jaci.2004.10.012. View

12.

McGhee S, Stiehm E, Cowan M, Krogstad P, McCabe E . Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Mol Genet Metab. 2005; 86(4):427-30. DOI: 10.1016/j.ymgme.2005.09.005. View

13.

McGhee S, Stiehm E, McCabe E . Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr. 2005; 147(5):603-8. DOI: 10.1016/j.jpeds.2005.06.001. View

14.

Sanchez J, Monaghan G, Borsting C, Norbury G, Morling N, Gaspar H . Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. Ann Hum Genet. 2006; 71(Pt 3):336-47. DOI: 10.1111/j.1469-1809.2006.00338.x. View

15.

Lebet T, Chiles R, Hsu A, Mansfield E, Warrington J, Puck J . Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med. 2008; 10(8):575-85. DOI: 10.1097/gim.0b013e31818063bc. View

16.

Griffith L, Cowan M, Kohn D, Notarangelo L, Puck J, Schultz K . Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol. 2008; 122(6):1087-96. PMC: 3357108. DOI: 10.1016/j.jaci.2008.09.045. View

17.

Villa A, Notarangelo L, Roifman C . Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2008; 122(6):1082-6. DOI: 10.1016/j.jaci.2008.09.037. View

18.

Jones J, Ritenbaugh C, Spence M, Hayward A . Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics. Hum Biol. 1991; 63(5):669-82. View

19.

Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L . Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009; 360(5):447-58. DOI: 10.1056/NEJMoa0805817. View

20.

Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y . Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr. 2009; 155(6):829-33. DOI: 10.1016/j.jpeds.2009.05.026. View