UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

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

Howley, Evey; Golwala, Zainab; Buckland, Matthew; Barzaghi, Federica; Ghosh, Sujal; Hackett, Scott; Hague, Rosie; ... Kreins, Alexandra Y; + view all (2023) Impact of newborn screening for SCID on the management of congenital athymia. Journal of Allergy and Clinical Immunology 10.1016/j.jaci.2023.08.031. Green open access

[thumbnail of Buckland_1-s2.0-S0091674923011144-main.pdf]
Preview
Text
Buckland_1-s2.0-S0091674923011144-main.pdf

Download (703kB) | Preview

Abstract

BACKGROUND: Newborn screening (NBS) programmes for severe combined immunodeficiency (SCID) facilitate early SCID diagnosis and promote early treatment with haematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with congenital athymia are also identified through NBS due to severe T-cell lymphopaenia. With the expanding introduction of NBS programmes, 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 the age at referral and complications between athymic infants diagnosed after clinical presentation (N=25) and patients identified through NBS (N=19), referred for thymus transplantation at GOSH between 10/2019 and 02/2023. We assessed whether age at time of treatment influences thymic output at 6 and 12 months after transplantation. RESULTS: Infants referred after NBS identification were significantly younger and had less complications, in particular less infections. All deaths occurred in the non-NBS group, including six patients before and two after thymus transplantation because of pre-existing infections. In the absence of significant co-morbidities or diagnostic uncertainties, timely treatment was more frequently achieved after NBS. Treatment at <4 months of age was associated with higher thymic output at 6- and 12-months post-transplantation. CONCLUSION: NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation prior to acquiring infections or other complications, and facilitating treatment at younger age, thus playing an important role in improving their outcomes.

Type: Article
Title: Impact of newborn screening for SCID on the management of congenital athymia
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jaci.2023.08.031
Publisher version: https://doi.org/10.1016/j.jaci.2023.08.031
Language: English
Additional information: https://creativecommons.org/licenses/by/4.0/ Under a Creative Commons license open access
Keywords: DiGeorge syndrome, Thymus transplantation, athymia, newborn screening, severe combined immunodeficiency
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10177021
Downloads since deposit
14Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item