Article

DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling

2021-05-24

Abstract excerpt

<title>Abstract</title> <p>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 to a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. Here we report four new patients carrying biallelic DNASE1L3 pathogenic var...

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Literature Corpus work: 6f45d654-f407-5ba7-a476-5b87c9fef79c
DOI: 10.21203/rs.3.rs-502604/v1

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