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The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
Immunity|May 1, 2026
NK cell dysfunction and interferon gamma production underlie autoinflammation in mevalonate kinase deficiencyMarcia A Munoz, Iona S Schuster, James Cremasco, et al.
The Journal of Clinical Investigation|November 3, 2015
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN productionAnja Brehm, Yin Liu, Afzal Sheikh, et al.
Communications Biology|August 23, 2020
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosisAkira Meguro, Mami Ishihara, Martin Petrek, et al.
The New England Journal of Medicine|May 31, 2023
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory SyndromeHratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.
JAMA Network Open|May 31, 2023
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus StatementPui Y Lee, Brad A Davidson, Roshini S Abraham, et al.
The New England Journal of Medicine|June 5, 2009
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistIvona Aksentijevich, Seth L Masters, Polly J Ferguson, et al.
World Journal of Urology|February 20, 2016
Standardization of definitions in focal therapy of prostate cancer: report from a Delphi consensus projectA W Postema, T M De Reijke, O Ukimura, et al.
The New England Journal of Medicine|August 11, 2006
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibitionRaphaela Goldbach-Mansky, Natalie J Dailey, Scott W Canna, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|May 8, 2018
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African AmericansPravitt Gourh, Elaine F Remmers, Steven E Boyden, et al.
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