Article

Dominant negative OTULIN Related Autoinflammatory Syndrome

2023-03-27

Abstract excerpt

Biallelic loss of function mutations in the linear chain specific deubiquitinase (DUB) OTULIN (OTU Deubiquitinase With Linear Linkage Specificity) result in OTULIN Related Autoinflammatory Syndrome (ORAS). To date all reported ORAS patients have had homozygous or compound heterozygous loss of function mutations, however we identified a patient with a monoallelic heterozygous mutation p.Cys129Ser. Consistent with t...

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Literature Corpus work: 82afad72-4f09-597f-95fe-66ddf77fcf95
DOI: 10.1101/2023.03.24.23287549

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