0000000000228980

AUTHOR

Tadej Avčin

showing 2 related works from this author

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

2022

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 the characteristic features of DNASE1L3 deficiencies in human. Methods: We identified, characterized, and analyzed five new patients carrying biallelic DNASE1L3 variations. Whole or targeted exome and/or Sanger sequencing was performed to detect pathogenic variations in five juvenile …

VasculitisEndodeoxyribonucleasesImmunologyDNAInflammatory Bowel DiseasesLupus NephritisChromatinANCA Apoptosis DNASE1L3 Interferon-stimulated genes Nucleic acids Systemic lupus erythematosus Type I interferonAntibodies Antineutrophil CytoplasmicSettore MED/38 - Pediatria Generale E SpecialisticaPhenotypeInterferon Type IImmunology and AllergyHumansLupus Erythematosus SystemicInterferonsJournal of clinical immunology
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