Article
Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity.
Frontiers in immunology - 1 Jan 2022
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
Abstract excerpt
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 mother) with a predominantly autoimmune phenotype, including thyroiditis, type I diabetes, hemolytic anemia and...
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