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The Journal of Experimental Medicine|March 10, 2026
The STING HAQ haplotype and clinical non-penetrance in COPA syndromeClémence David, Tifenn Wauquier, Alix de Becdelièvre, et al.The Journal of Experimental Medicine|April 20, 2017
Detection of interferon alpha protein reveals differential levels and cellular sources in diseaseMathieu P Rodero, Jérémie Decalf, Vincent Bondet, et al.Journal of Clinical Immunology|May 12, 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach StudyMarie-Louise Frémond, Marie Hully, Benjamin Fournier, et al.Arthritis and Rheumatism|May 14, 2013
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferationAlexandre Belot, Paul R Kasher, Eleanor W Trotter, et al.Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.The Journal of Experimental Medicine|July 16, 2026
Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)Conor Gruber, Meredith Ramba, Bineeta Debnath, et al.Nature Genetics|January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatureTracy A Briggs, Gillian I Rice, Sarah Daly, et al.The Lancet. Rheumatology|January 24, 2024
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohortsAlexandre Belot, Gillian I Rice, Sulliman Ommar Omarjee, et al.The Journal of Allergy and Clinical Immunology|April 6, 2015
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunityAnne-Laure Mathieu, Estelle Verronese, Gillian I Rice, et al.Nature|October 14, 2014
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammationXianqin Zhang, Dusan Bogunovic, Béatrice Payelle-Brogard, et al.Pageof 20