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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
Stremenova Spegarova J, Sinnappurajar P, Al Julandani D, Navickas R, Griffin H, Ahuja M, Grainger A, Livingstone K, Rice GI, Sutherland F, Hayes C, Parke S, Pang L, Roderick MR, Slatter M, Crow Y, Ramanan AV, Hambleton S. Stremenova Spegarova J, et al. J Clin Invest. 2024 May 16;134(13):e179193. doi: 10.1172/JCI179193. J Clin Invest. 2024. PMID: 38753439 Free PMC article. No abstract available.
Inheritance of STING mosaicism in two half-siblings.
de Becdelièvre A, Eveillard LA, Wolska-Kuśnierz B, Frémond ML; SAVI study group. de Becdelièvre A, et al. J Clin Immunol. 2024 Jul 30;44(7):168. doi: 10.1007/s10875-024-01768-9. J Clin Immunol. 2024. PMID: 39078464 Free PMC article. No abstract available.
A Rare Genetic Cause of Spastic Paraparesis.
Bhattacharjee S, Siripurapu R, Swale A, Crow YJ, Kobylecki C. Bhattacharjee S, et al. Neurology. 2024 Dec 24;103(12):e210110. doi: 10.1212/WNL.0000000000210110. Epub 2024 Dec 2. Neurology. 2024. PMID: 39621950 Free PMC article. No abstract available.