Article

Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation

2026-08-07

Abstract excerpt

<h4>Summary</h4> De novo mutations underlying early-onset systemic autoinflammatory diseases have identified key regulators of innate immunity, including pathways that drive IL-1-mmediated inflammation. Here we describe two unrelated girls presenting in infancy with systemic inflammation and sterile lung abscesses, who harbor the same de novo gain-of-function mutation in dysferlin ( DYSF ; p.P1449L) Myeloid expr...

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Literature Corpus work: 97a28c51-3396-52ce-b4b9-f0933e7feb86
DOI: 10.64898/2026.08.04.26358821

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