Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
Standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. Retrospective mass spectrometry (MS/MS) analysis showed diagnostic deoxyadenosine elevation at birth. We advocate integrating MS/MS purine profiling into first-tier screening to enable early diagnosis and timely curative treatment.
Authors
- Michael S. Hershfield (ORCID: https://orcid.org/0000-0003-3589-8554)
- Adam Byrne (ORCID: https://orcid.org/0009-0009-8368-1289)
- Kristine Jeganathan (ORCID: https://orcid.org/0009-0008-1815-1524)
- GISELLA MATOS DA SILVA WHITE (ORCID: https://orcid.org/0009-0001-1941-4751)
- Anne Pham‐Huy (ORCID: https://orcid.org/0000-0001-5728-3134)
- Teresa K. Tarrant (ORCID: https://orcid.org/0000-0003-4067-5363)
- Élie Haddad (ORCID: https://orcid.org/0000-0003-2446-6879)
- Eyal Grunebaum (ORCID: https://orcid.org/0000-0002-2586-6391)
- Matthew P.A. Henderson (ORCID: https://orcid.org/0000-0002-8404-8559)
Institutions
- Duke University (US)
- Children's Hospital of Eastern Ontario (CA)
- Hospital for Sick Children (CA)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Durham VA Medical Center (US)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-11-10
- DOI
- https://doi.org/10.70962/jhi.20250102
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Amgen
- Sanofi
- Bausch Health