An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7

The NLRP3 inflammasome is a vital mediator of innate immune responses. There are numerous NLRP3 mutations that cause NLRP3-associated autoinflammatory diseases (NLRP3-AIDs), mostly in or around the NACHT domain. Here, we present a patient with a rare leucine-rich repeat (LRR) domain mutation, p.Arg9...

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Detalles Bibliográficos
Autores principales: Caseley, Emily A., Lara-Reyna, Samuel, Poulter, James A., Topping, Joanne, Carter, Clive, Nadat, Fatima, Spickett, Gavin P., Savic, Sinisa, McDermott, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528658/
https://www.ncbi.nlm.nih.gov/pubmed/34671876
http://dx.doi.org/10.1007/s10875-021-01161-w

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