2021
DOI: 10.1016/j.jaci.2020.12.269
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Schnitzler Syndrome With Extremely Elevated IL-6 Responds To Anti IL-1 Receptor Antagonist

Abstract: RATIONALE: The Runx1 transcription factor decreases GATA3 and IL-4 expression and Th2 skewing and promotes Th1/Th17/Tregulatory (Treg) cell development and function. We hypothesized that patients with germline RUNX1 deficiency would be predisposed to allergic and/or autoimmune disease. METHODS: Thirty-one patients (17 female; median age 42 years, range 2-74) with confirmed RUNX1 mutations were evaluated. Peripheral blood was obtained to evaluate hematologic variables, total and allergen specific IgE, and lymph… Show more

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