Article

Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2

2025-07-31

Abstract excerpt

<title>Abstract</title> <p> Purpose Type I interferonopathies are Mendelian inborn errors of immunity caused by defective clearance or recognition of nucleic acids, resulting in chronic type I interferon (IFN) activation. DNase II is a lysosomal endonuclease critical for degrading DNA during erythropoiesis and apoptosis. Biallelic loss-of-function variants in <italic>DNASE2</italic> cause a rare autoinflammato...

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Literature Corpus work: 8bc9a1b9-b9e3-5382-b5a8-b1798215942b
DOI: 10.21203/rs.3.rs-7039031/v1

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