Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1—A Case Report

Introduction: Aicardi-Gouteres syndrome (AGS) is a monogenic interferonopathy characterized by early onset, dysregulation of skin (chilblain lesions), brain, and immune systems (fever, hepatomegaly, glaucoma, arthritis, myositis, and autoimmune activity). The disease looks like TORCH (Toxoplasmosis,...

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Detalles Bibliográficos
Autores principales: Sorokina, Lubov S., Raupov, Rinat K., Kostik, Mikhail M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296096/
https://www.ncbi.nlm.nih.gov/pubmed/37371788
http://dx.doi.org/10.3390/biomedicines11061693

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296096/
https://www.ncbi.nlm.nih.gov/pubmed/37371788
http://dx.doi.org/10.3390/biomedicines11061693

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