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Article

Low-frequency inherited complement receptor variants are associated with purpura fulminans

14 Dec 2023

Abstract excerpt

ABSTRACT: Extreme disease phenotypes can provide key insights into the pathophysiology of common conditions, but studying such cases is challenging due to their rarity and the limited statistical power of existing methods. Herein, we used a novel approach to pathway-based mutational burden testing, the rare variant trend test (RVTT), to investigate genetic risk factors for an extreme form of sepsis-induced...

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PMID: 38096369
DOI: 10.1182/blood.2023021231

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