Management of newborn screening for severe combined immunodeficiency at a quaternary referral centre—an updated algorithm

Publication: LymphoSign Journal
5 July 2023

Abstract

Severe combined immunodeficiency (SCID) is caused by critical genetic defects affecting the immune system. Early diagnosis and intervention are essential for preventing life-threatening infections, end-organ damage, and complications. Newborn screening for SCID is currently performed in many provinces and territories across Canada. The SickKids Newborn Screening Centre in Toronto, Ontario, is a quaternary referral centre that has evaluated SCID newborn screen-positive infants since the program’s introduction in 2013. Here, we provide updated algorithms for clinical investigation and follow-up of infants with an initial positive screen.
Statement of novelty: We provide algorithms for the clinical follow-up of SCID newborn screen-positive infants at a quaternary referral centre.

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REFERENCES

Barry, J.C., Crowley, T.B., Jyonouchi, S., Heimall, J., Zackai, E.H., Sullivan, K.E., and Mcdonald-Mcginn, D.M. 2017. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. J. Clin. Immunol. 37: 476–485.
Chan K. and Puck J.M. 2005. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 115: 391–398.
Cross C. 2013. Ontario newborns now screened for SCID. Can. Med. Assoc. J. 185: E616–E616.
Garkaby J., Abrego Fuentes L.E., Willett Pachul J., Watts-Dickens A., and Fraser M. 2022. An unusual presentation of DiGeorge syndrome. LymphoSign J. 9: 52–56.
Grazioli S., Bennett M., Hildebrand K.J., Vallance H., Turvey S.E., and Junker A.K. 2014. Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency. Clin. Immunol. 153: 209–210.
Hazenberg M.D., Verschuren M.C., Hamann D., Miedema F., and Van Dongen J.J. 2001. T cell receptor excision circles as markers for recent thymic emigrants: basic aspects, technical approach, and guidelines for interpretation. J. Mol. Med. (Berl.) 79: 631–640.
Kwan A., Abraham R.S., Currier R., Brower A., Andruszewski K., Abbott J.K., Baker M., Ballow M., Bartoshesky L.E., Bonilla F.A., Brokopp C., Brooks E., Caggana M., Celestin J., Church J.A., Comeau A.M., Connelly J.A., Cowan M.J., Cunningham-Rundles C., Dasu T., Dave N., De La Morena M.T., Duffner U., Fong C.T., Forbes L., Freedenberg D., Gelfand E.W., Hale J.E., Hanson I.C., Hay B.N., Hu D., Infante A., Johnson D., Kapoor N., Kay D.M., Kohn D.B., Lee R., Lehman H., Lin Z., Lorey F., Abdel-Mageed A., Manning A., Mcghee S., Moore T.B., Naides S.J., Notarangelo L.D., Orange J.S., Pai S.Y., Porteus M., Rodriguez R., Romberg N., Routes J., Ruehle M., Rubenstein A., Saavedra-Matiz C.A., Scott G., Scott P.M., Secord E., Seroogy C., Shearer W.T., Siegel S., Silvers S.K., Stiehm E.R., Sugerman R.W., Sullivan J.L., Tanksley S., Tierce M.L.T., Verbsky J., Vogel B., Walker R., Walkovich K., Walter J.E., Wasserman R.L., Watson M.S., Weinberg G.A., Weiner L.B., Wood H., Yates A.B., Puck J.M., and Bonagura V.R. 2014. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA, 312: 729–38.
Kwan A. and Puck J. M. 2015. History and current status of newborn screening for severe combined immunodeficiency. Semin. Perinatol. 39: 194–205.
Mandola A.B., Reid B., Sirror R., Brager R., Dent P., Chakroborty P., Bulman D.E., and Roifman C.M. 2019a. Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years’ Experience. Front. Immunol. 10: 2940.
Mandola, A.B., Reid, B., Sirror, R., Brager, R., Dent, P., Chakroborty, P., Bulman, D.E., and Roifman, C.M. 2019b. Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years’ Experience. Front. Immunol. 10.
Pai S.Y., Logan B.R., Griffith L.M., Buckley R.H., Parrott R.E., Dvorak C.C., Kapoor N., Hanson I.C., Filipovich A.H., Jyonouchi S., Sullivan K.E., Small T.N., Burroughs L., Skoda-Smith S., Haight A.E., Grizzle A., Pulsipher M.A., Chan K.W., Fuleihan R.L., Haddad E., Loechelt B., Aquino V.M., Gillio A., Davis J., Knutsen A., Smith A.R., Moore T.B., Schroeder M.L., Goldman F.D., Connelly J.A., Porteus M.H., Xiang Q., Shearer W.T., Fleisher T.A., Kohn D.B., Puck J.M., Notarangelo L.D., Cowan M.J., and O’reilly R.J. 2014. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N. Engl. J. Med. 371: 434–446.
Puck J.M. 2012. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J. Allergy Clin. Immunol. 129: 607–616.
Reid, B.E., Ovadia, A., and Dinur Schejter, Y. 2017. Managing Newborn Screening for SCID in a Referral Centre. LymphoSign J. 4: 77–79.
Roifman, C.M. 2018. Primary T-cell immunodeficiencies. In Clinical immunology: Principles and practice. Edited by Rich, R. 5th ed. Elsevier Health Sciences.
Rozmus J., Junker A., Thibodeau M.L., Grenier D., Turvey S.E., Yacoub W., Embree J., Haddad E., Langley J.M., Ramsingh R.M., Singh V.-A., Long R., and Schultz K.R. 2013. Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study. J. Clin. Immunol. 33: 1310–1316.
Scott, O., Brager, R., Dent, P., Siu, V., Reid, B., Kim, V.H.D., and Roifman, C.M. 2019. Survival of patients with severe combined immunodeficiency in the newborn screening era: a single-centre experience 2013–2019 In Abstracts from the Immunodeficiency Canada—7th SCID Symposium, Montreal, QC, 24 October 2019. LymphoSign J. 6: 148–163.
Scott O., Garkaby J., Willett-Pachul J., Mandola A.B., and Pasternak Y. 2021. A novel splice site variant in FOXN1 in a patient with abnormal newborn screening for severe combined immunodeficiency and congenital lymphopenia. LymphoSign J. 8: 1–4.

Information & Authors

Information

Published In

cover image LymphoSign Journal
LymphoSign Journal
Volume 10Number 2June 2023
Pages: 36 - 41

History

Received: 3 May 2023
Accepted: 29 May 2023
Accepted manuscript online: 29 May 2023
Version of record online: 5 July 2023

Authors

Affiliations

Chaim M. Roifman [email protected]
The Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON
Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON
Linda Vong
The Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON
Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON

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