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Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>Christopher J A Duncan, Benjamin J Thompson, Rui Chen, 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.
The Journal of Allergy and Clinical Immunology. in Practice|November 20, 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 PatientsMarie-Louise Frémond, Alice Hadchouel, Laureline Berteloot, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
Nature Communications|December 21, 2017
Type I interferon-mediated autoinflammation due to DNase II deficiencyMathieu P Rodero, Alessandra Tesser, Eva Bartok, et al.
Annals of the Rheumatic Diseases|December 15, 2025
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndromeClémence David, Nadia Nathan, Eslam Al-Abadi, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
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