STAT3 Mutations in the Hyper-IgE Syndrome
Holland S, DeLeo F, Elloumi H, Hsu A, Uzel G, Brodsky N, Freeman A, Demidowich A, Davis J, Turner M, Anderson V, Darnell D, Welch P, Kuhns D, Frucht D, Malech H, Gallin J, Kobayashi S, Whitney A, Voyich J, Musser J, Woellner C, Schäffer A, Puck J, Grimbacher B. STAT3 Mutations in the Hyper-IgE Syndrome. New England Journal Of Medicine 2007, 357: 1608-1619. PMID: 17881745, DOI: 10.1056/nejmoa073687.Peer-Reviewed Original ResearchConceptsSrc homology 2Hyper-IgE syndromeIn-frame deletionMononuclear cellsIncreased innate immune responseInterleukin-6Tumor necrosis factor-alpha levelsElevated serum IgE levelsLevels of monocyte chemoattractant protein-1Sporadic casesIn vitro culture of mononuclear cellsMonocyte chemoattractant protein-1Innate immune responseInterleukin-6 signalingSerum IgE levelsLevels of cytokinesDisorders of immunityCultures of mononuclear cellsDNA bindingProinflammatory gene transcriptionDiscrete mutationsChemoattractant protein-1Missense mutationsSTAT3 mutationsPresence of interleukin-6