Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity

Haploinsufficiency of A20 (HA20) is an inflammatory disease caused by mutations in the TNFAIP3 gene classically presenting with Behcet’s-like disease. A20 acts as an inhibitor of inflammation through its effect on NF-kB pathway. Here we describe four consanguineous patients (three sisters and their...

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Detalles Bibliográficos
Autores principales: Rossi, Marianna Nicoletta, Federici, Silvia, Uva, Andrea, Passarelli, Chiara, Celani, Camilla, Caiello, Ivan, Matteo, Valentina, Petrocchi, Stefano, Mortari, Eva Piano, De Benedetti, Fabrizio, Prencipe, Giusi, Insalaco, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825778/
https://www.ncbi.nlm.nih.gov/pubmed/35154120
http://dx.doi.org/10.3389/fimmu.2022.804401

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825778/
https://www.ncbi.nlm.nih.gov/pubmed/35154120
http://dx.doi.org/10.3389/fimmu.2022.804401

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