Article

Rare biallelic loss-of-function variants in the <i>LRRK2</i> kinase cause interstitial lung disease

2026-05-19

Abstract excerpt

<h4>Summary</h4> We report that biallelic LRRK2 loss-of-function (LoF) causes a Mendelian form of interstitial lung disease characterized by alveolar epithelial cell dysfunction and lung fibrosis in two brothers with a homozygous nonsense variant. Integrated clinical, imaging, histopathological, and biomarker analyses showed absent LRRK2 protein, reduced Rab10 phosphorylation, impaired alveolar type 2 cell funct...

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Literature Corpus work: 75cbd6b1-a725-55bd-99e3-399c53c022ec
DOI: 10.64898/2026.05.15.26352763

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