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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.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.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 Journal of Experimental Medicine|July 9, 2026
ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtypeFlorence Assan, Margot Tragin, Sahiti Marella, 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|November 24, 2020
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processingCarolina Uggenti, Alice Lepelley, Marine Depp, et al.Nature Communications|March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Henriette Aksnes, Reza Maroofian, et al.The Journal of Clinical Investigation|October 15, 2024
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activationJonathan Bohlen, Ivan Bagarić, Taja Vatovec, et al.Pageof 4