Low-frequency inherited complement receptor variants are associated with purpura fulminans
Bendapudi P, Nazeen S, Ryu J, Söylemez O, Robbins A, Rouaisnel B, O'Neil J, Pokhriyal R, Yang M, Colling M, Pasko B, Bouzinier M, Tomczak L, Collier L, Barrios D, Ram S, Toth-Petroczy A, Krier J, Fieg E, Dzik W, Hudspeth J, Pozdnyakova O, Nardi V, Knight J, Maas R, Sunyaev S, Losman J. Low-frequency inherited complement receptor variants are associated with purpura fulminans. Blood 2024, 143: 1032-1044. PMID: 38096369, PMCID: PMC10950473, DOI: 10.1182/blood.2023021231.Peer-Reviewed Original ResearchConceptsPurpura fulminansGermline whole-exome sequencingFunction-altering variantsInvestigate genetic risk factorsAssociated with purpura fulminansMultivariate logistic regression analysisWhole-exome sequencingInfectious purpura fulminansAssociated with PFCases of PFPatient sample collectionLogistic regression analysisBurden testsGenetic risk factorsFunctional characterizationSevere sepsisComplement receptor CR3Sepsis-inducedDisease phenotypeReceptor variantsDisease acuityRisk factorsMedical recordsLimited statistical powerInherited defects
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