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Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics

18 Mar 2021

Abstract excerpt

Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis. HPS pulmonary fibrosis (HPS-PF) occurs in 100% of patients with subtype HPS-1 and has a similar presentation to idiopathic pulmonary fibrosis. Upon onset, individuals with HPS-PF have approximately 3 years...

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PMID: 33841163
DOI: 10.3389/fphar.2021.644671

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