Impact of newborn screening for SCID on the management of congenital athymia

Evey Howley, Zainab Golwala, Matthew Buckland, Federica Barzaghi, Sujal Ghosh, Scott Hackett, Rosie Hague, Fabian Hauck, Ursula Holzer, Adam Klocperk, Minna Koskenvuo, Nufar Marcus, Antonio Marzollo, Malgorzata Pac, Jan Sinclair, Carsten Speckmann, Maarja Soomann, Lynne Speirs, Sneha Suresh, Sophie TaqueJoris van Montfrans, Horst von Bernuth, Brynn K. Wainstein, Austen Worth, E. Graham Davies, Alexandra Y. Kreins*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Background: Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodeficiency and promote early treatment with hematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with congenital athymia are also identified through NBS because of severe T-cell lymphopenia. With the expanding introduction of NBS programs, referrals of athymic patients for treatment with thymus transplantation have recently increased at Great Ormond Street Hospital (GOSH) (London, United Kingdom). Objective: We studied the impact of NBS on timely diagnosis and treatment of athymic infants with thymus transplantation at GOSH. Methods: We compared age at referral and complications between athymic infants diagnosed after clinical presentation (n = 25) and infants identified through NBS (n = 19) who were referred for thymus transplantation at GOSH between October 2019 and February 2023. We assessed whether age at time of treatment influences thymic output at 6 and 12 months after transplantation. Results: The infants referred after identification through NBS were significantly younger and had fewer complications, in particular fewer infections. All deaths occurred in the group of those who did not undergo NBS, including 6 patients before and 2 after thymus transplantation because of preexisting infections. In the absence of significant comorbidities or diagnostic uncertainties, timely treatment was achieved more frequently after NBS. Treatment when younger than age 4 months was associated with higher thymic output at 6 and 12 months after transplantation. Conclusion: NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation before they acquire infections or other complications and facilitating treatment at a younger age, thus playing an important role in improving their outcomes.

Original languageEnglish
Pages (from-to)330-334
Number of pages5
JournalJournal of Allergy and Clinical Immunology
Issue number1
StatePublished - Jan 2024


  • DiGeorge syndrome
  • Thymus transplantation
  • athymia
  • newborn screening
  • severe combined immunodeficiency


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