Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks
This study shows the proportion of splicing variants in a cohort of IEI patients, providing their clinical phenotypic characteristics and the methodology used to validate the splicing defects. Based on the results, an algorithm is proposed to clarify when a splicing variant should be validated by complementary methodology and when, by contrast, it can be directly considered disease causing.
Authors
- Luis Allende Martínez
- Teresa del Rosal (ORCID: https://orcid.org/0000-0002-8756-7020)
- Carla Gianelli
- Ángel Robles‐Marhuenda (ORCID: https://orcid.org/0000-0003-1156-2570)
- Carmen Cámara Hijón (ORCID: https://orcid.org/0000-0002-9790-7412)
- Elisabet Matas Pérez (ORCID: https://orcid.org/0000-0003-2683-9333)
- Rebeca Rodríguez Pena (ORCID: https://orcid.org/0000-0002-3551-893X)
- Brenda Sánchez Garrido
- María Bravo García‐Morato (ORCID: https://orcid.org/0000-0002-6214-7599)
- Laura Miguel Berenguel
- Ana Méndez‐Echevarría (ORCID: https://orcid.org/0000-0002-7455-9080)
- Maria Lourdes Molina
- Luis Garcı́a (ORCID: https://orcid.org/0000-0003-3233-3582)
- Marta Feito Rodríguez
- P. Nozal Aranda
- Eduardo López Granados
Institutions
- Hospital Universitario La Paz (ES)
- Research Institute Hospital 12 de Octubre (ES)
- Hospital La Paz Institute for Health Research (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-01-29
- DOI
- https://doi.org/10.3389/fimmu.2024.1499415
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Society for Paediatric Infectious Diseases