Publications by authors named "Johanna Lowenstein Schmidt"
Am J Med Genet A
February 2015
Article Synopsis
- . Aicardi-Goutières syndrome is an inflammatory disease caused by mutations in seven specific genes, affecting 374 patients studied from 299 families.
- . Patients typically present with either in utero disease onset (22.8%) or post-natal symptoms within the first year of life (68.6%), leading to severe disabilities and a high mortality rate (19.3%).
- . A strong link was found between these genetic mutations and increased type I interferon activity, suggesting a need for targeted treatment strategies to address the serious health issues associated with the syndrome.
