Identification of a neutrophil-specific PIK3R1 mutation facilitates targeted treatment in a patient with Sweet syndrome
Bhattacharya S, Basu S, Sheng E, Murphy C, Wei J, Kersh A, Nelson C, Bryer J, Ashchyan H, Steele K, Forrestel A, Seykora J, Micheletti R, James W, Rosenbach M, Leung T. Identification of a neutrophil-specific PIK3R1 mutation facilitates targeted treatment in a patient with Sweet syndrome. Journal Of Clinical Investigation 2023, 133: e162137. PMID: 36355435, PMCID: PMC9797331, DOI: 10.1172/jci162137.Peer-Reviewed Original ResearchMeSH KeywordsAdrenal Cortex HormonesClass Ia Phosphatidylinositol 3-KinaseFemaleHumansMiddle AgedMutationNeutrophilsPhosphatidylinositol 3-KinasesSweet SyndromeConceptsSteroid-sparing agentSweet's syndromeInflammatory diseasesCorticosteroid-related side effectsElevated IL-1Febrile neutrophilic dermatosisDramatic therapeutic responseReceptor 1 antagonistNeutrophil respiratory burstMultiorgan inflammatory diseasePersonalized medicine approachPI3K/AktSuccessful clinical interventionNeutrophilic dermatosisFrontline therapyRefractory casesNeutrophilic infiltrateBlood countIL-1βNeutrophil functionNeutrophil migrationTherapeutic responseLiver enzymesClinical challengeIL-1