P334: Deep phenotyping of thirty-one cases of Aicardi-Goutières syndrome
Aicardi-Goutières syndrome (AGS) is characterized as a type I interferonopathy and classically patients present in the neonatal period with features of congenital infection including microcephaly, hepatosplenomegaly, thrombocytopenia, irritability, seizures and intracranial calcification. Another cohort of patients presents later with global developmental delay, seizures, hypotonia, spasticity, chilblains and brain scan findings of cerebral atrophy, white matter signal hyperintensity and intracranial calcification.
Authors
- Gavin Ryan
- Yanick Joseph Crow (ORCID: https://orcid.org/0000-0001-7211-7564)
- Swati Naik (ORCID: https://orcid.org/0000-0001-9979-7360)
- Evangeline Wassmer (ORCID: https://orcid.org/0000-0002-2446-1106)
- Amitav Parida
- Samuel Thomas
- Samuel Jack
- Annapurna Sudarsanam
Institutions
- University College Birmingham (GB)
- Birmingham Women's Hospital (GB)
- South Warwickshire NHS Foundation Trust (GB)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- University of Birmingham (GB)
- University of Edinburgh (GB)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102299
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.00