Article

Homozygous<i>OTULIN</i>Variant Linked to OTULIN-Related Autoinflammatory Syndrome with Abscess Formation

2025-03-05

Abstract excerpt

Homozygous OTU deubiquitinase with linear linkage specificity (OTULIN) variants cause OTULIN-Related Autoinflammatory Syndrome (ORAS). This disease is characterized by early-onset autoinflammation, fever, panniculitis, diarrhea, and arthritis. In contrast, heterozygous and compound-heterozygous OTULIN variants have been associated with a phenotype defined by abscess development in different organs. Whether homozyg...

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Literature Corpus work: 53946d67-6691-555c-b407-e1351188b7f5
DOI: 10.1101/2025.03.04.25323351

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