Impact of newborn screening for SCID on the management of congenital athymia.
Abstract
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.
Keywords: DiGeorge syndrome; Thymus transplantation; athymia; newborn screening; severe combined immunodeficiency.
Author
Howley, Evey
Golwala, Zainab
Buckland, Matthew
Barzaghi, Federica
Ghosh, Sujal
Hackett, Scott
Hague, Rosie
Hauck, Fabian
Holzer, Ursula
Klocperk, Adam
Koskenvuo, Minna
Marcus, Nufar
Marzollo, Antonio
Pac, Malgorzata
Sinclair, Jan
Speckmann, Carsten
Soomann, Maarja
Speirs, Lynne
Suresh, Sneha
Taque, Sophie
van Montfrans, Joris
von Bernuth, Horst
Wainstein, Brynn K
Worth, Austen
Davies, E Graham
Kreins, Alexandra Y
Golwala, Zainab
Buckland, Matthew
Barzaghi, Federica
Ghosh, Sujal
Hackett, Scott
Hague, Rosie
Hauck, Fabian
Holzer, Ursula
Klocperk, Adam
Koskenvuo, Minna
Marcus, Nufar
Marzollo, Antonio
Pac, Malgorzata
Sinclair, Jan
Speckmann, Carsten
Soomann, Maarja
Speirs, Lynne
Suresh, Sneha
Taque, Sophie
van Montfrans, Joris
von Bernuth, Horst
Wainstein, Brynn K
Worth, Austen
Davies, E Graham
Kreins, Alexandra Y
Citations
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Date
2023-09-09
Type
Article
Subject
Paediatrics
Collections
Citation
Howley E, Golwala Z, Buckland M, Barzaghi F, Ghosh S, Hackett S, Hague R, Hauck F, Holzer U, Klocperk A, Koskenvuo M, Marcus N, Marzollo A, Pac M, Sinclair J, Speckmann C, Soomann M, Speirs L, Suresh S, Taque S, van Montfrans J, von Bernuth H, Wainstein BK, Worth A, Davies EG, Kreins AY. Impact of newborn screening for SCID on the management of congenital athymia. J Allergy Clin Immunol. 2024 Jan;153(1):330-334. doi: 10.1016/j.jaci.2023.08.031. Epub 2023 Sep 9.
Journal / Source Title
Journal of Allergy and Clinical Immunology
DOI
10.1016/j.jaci.2023.08.031
PMID
37678573
Publisher
Mosby
Publisher’s URL
https://www.sciencedirect.com/science/article/pii/S0091674923011144