Reula, Alfonso-José-Tapiz-i; Cochino, Alexis-Virgil; Martíns, Andreia-L; Angosto-Bazarra, Diego; Ortiz-de-Landazuri, Iñaki; Mensa-Vilaro, Anna; Cabral, Marta; Baroja-Mazo, Alberto; Baños, María-C; Lobato-Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yagüe, Jordi; Casals, Ferrán; Oliva, Baldomero; Figueiredo, Antonio-E; Pelegrín, Pablo; Aróstegui, Juan-I
(Springer/Plenum Publishers, 2022-10)
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 ...