First Description of Late ‐Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism

ConclusionWe have identified the post-zygotic p.Ser171Phe NLRC4 variant as a plausible cause of the disease in the enrolled patient. Functional and structural studies clearly support for the first time itsgain-of-function behavior consistent with previously reported NLRC4 pathogenic variants. These novel evidences should be considered in the diagnostic workup of patients with uncharacterized AID starting during adulthood.

Source: Arthritis and Rheumatology - October 21, 2021 Category: Rheumatology Authors: Daniela Ionescu, Alejandro Pe ñín‐Franch, Anna Mensa‐Vilaró, Paola Castillo, Laura Hurtado‐Navarro, Cristina Molina‐López, Silvia Romero‐Chala, Susana Plaza, Virginia Fabregat, Segundo Buján, Joana Marques, Ferran Casals, Jordi Tags: BRIEF REPORT Source Type: research