Article
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Journal of clinical immunology - 1 Aug 2022
Tusseau Maud, Lovšin Ema, Samaille Charlotte, Pescarmona Rémi, Mathieu Anne-Laure, Maggio Maria-Cristina, Selmanović Velma, Debeljak Marusa, Dachy Angelique, Novljan Gregor, Janin Alexandre, Januel Louis, Gibier Jean-Baptiste, Chopin Emilie, Rouvet Isabelle, Goncalves David, Fabien Nicole, Rice Gillian I, Lesca Gaétan, Labalme Audrey, Romagnani Paola, Walzer Thierry, Viel Sebastien, Perret Magali, Crow Yanick J, Avčin Tadej, Cimaz Rolando, Belot Alexandre
Abstract excerpt
BACKGROUND: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated with a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. OBJECTIVES: To explore interferon signaling in DNASE1L3 deficient patients. To depict...
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