Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia
Several second tier tests can potentially reduce the number of false-positive referrals in NBS for XLA. NGS seems to be the most effective technique in NBS for XLA and other forms of agammaglobulinemia. Our results show promising first steps towards the implementation of NBS for XLA.
Authors
- Sandra Imholz
- Sahila Balkassmi
- Hermine A. van Duyvenvoorde (ORCID: https://orcid.org/0000-0003-0451-2065)
- Maartje Blom (ORCID: https://orcid.org/0000-0002-2993-7847)
- Mirjam van der Burg (ORCID: https://orcid.org/0000-0002-1510-3104)
- Ingrid Pico‐Knijnenburg (ORCID: https://orcid.org/0000-0001-6325-8314)
- Annelotte J. Duintjer (ORCID: https://orcid.org/0009-0003-6888-9694)
Institutions
- Leiden University Medical Center (NL)
- National Institute for Public Health and the Environment (NL)
Publication Details
- Journal
- Journal of Clinical Immunology
- Published
- 2025-11-08
- DOI
- https://doi.org/10.1007/s10875-025-01927-6
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Takeda Pharmaceuticals International