Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

Pathogenic RIPK1 variants have been described as the cause of two different inborn errors of immunity. Biallelic loss-of-function variants cause the recessively inherited RIPK1 deficiency, while monoallelic variants impairing the caspase-8-mediated RIPK1 cleavage provoke a novel autoinflammatory dis...

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Detalles Bibliográficos
Autores principales: Tapiz i Reula, Alfonso José, Cochino, Alexis-Virgil, Martins, Andreia L., Angosto-Bazarra, Diego, de Landazuri, Iñaki Ortiz, Mensa-Vilaró, Anna, Cabral, Marta, Baroja-Mazo, Alberto, Baños, María C., Lobato-Salinas, Zulema, Fabregat, Virginia, Plaza, Susana, Yagüe, Jordi, Casals, Ferran, Oliva, Baldomero, Figueiredo, Antonio E., Pelegrín, Pablo, Aróstegui, Juan I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674708/
https://www.ncbi.nlm.nih.gov/pubmed/35716229
http://dx.doi.org/10.1007/s10875-022-01298-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674708/
https://www.ncbi.nlm.nih.gov/pubmed/35716229
http://dx.doi.org/10.1007/s10875-022-01298-2

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