Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
The homozygous variant c.2908G > A (p.Ala970Thr) in the ADAR gene causes Aicardi-Goutières Syndrome type 6. Intrafamilial phenotypic spectrum of the disease varies among individuals with the same pathogenic variant. Early initiation of ruxolitinib improved systemic signs but did not prevent the progression of neurological disease.
Authors
- Roberto Lloréns (ORCID: https://orcid.org/0000-0002-8677-8707)
- Alejandro Lopez-Jimenez
- Carmen Orellana (ORCID: https://orcid.org/0000-0003-4271-5859)
- Beatriz Beseler-Soto
- Alba Gabaldón-Albero (ORCID: https://orcid.org/0009-0004-9797-5994)
- Miguel Martí-Masanet
- Inmaculada Calvo (ORCID: https://orcid.org/0000-0001-6213-4424)
- Mónica Rosello (ORCID: https://orcid.org/0000-0001-9234-2953)
- S Hernández-Muela
- Carla Martín‐Grau (ORCID: https://orcid.org/0000-0002-0442-819X)
- Sergio Martín‐Zamora (ORCID: https://orcid.org/0000-0002-4943-6169)
- Francisco Martı́nez (ORCID: https://orcid.org/0000-0002-0589-2584)
- Berta López
Institutions
- Hospital Universitari i Politècnic La Fe (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
Publication Details
- Journal
- Pediatric Rheumatology
- Published
- 2024-12-28
- DOI
- https://doi.org/10.1186/s12969-024-01036-5
- Citations
- 2
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.48
Funders
- Instituto de Salud Carlos III