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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.
Adelon J, Abolhassani H, Esenboga S, Fouyssac F, Cagdas D, Tezcan I, Kuskonmaz B, Cetinkaya D, Suarez F, Mahdaviani SA, Plassart S, Mathieu AL, Fabien N, Malcus C, Morfin-Sherpa F, Billaud G, Tusseau M, Benezech S, Walzer T, De Villartay JP, Bertrand Y, Belot A. Adelon J, et al. Among authors: plassart s. J Allergy Clin Immunol. 2024 Nov;154(5):1300-1312. doi: 10.1016/j.jaci.2024.06.018. Epub 2024 Jul 6. J Allergy Clin Immunol. 2024. PMID: 38977084 Review.
Development of a Prediction Model for COVID-19 Acute Respiratory Distress Syndrome in Patients With Rheumatic Diseases: Results From the Global Rheumatology Alliance Registry.
Izadi Z, Gianfrancesco MA, Aguirre A, Strangfeld A, Mateus EF, Hyrich KL, Gossec L, Carmona L, Lawson-Tovey S, Kearsley-Fleet L, Schaefer M, Seet AM, Schmajuk G, Jacobsohn L, Katz P, Rush S, Al-Emadi S, Sparks JA, Hsu TY, Patel NJ, Wise L, Gilbert E, Duarte-García A, Valenzuela-Almada MO, Ugarte-Gil MF, Ribeiro SLE, de Oliveira Marinho A, de Azevedo Valadares LD, Giuseppe DD, Hasseli R, Richter JG, Pfeil A, Schmeiser T, Isnardi CA, Reyes Torres AA, Alle G, Saurit V, Zanetti A, Carrara G, Labreuche J, Barnetche T, Herasse M, Plassart S, Santos MJ, Rodrigues AM, Robinson PC, Machado PM, Sirotich E, Liew JW, Hausmann JS, Sufka P, Grainger R, Bhana S, Costello W, Wallace ZS, Yazdany J; Global Rheumatology Alliance Registry. Izadi Z, et al. Among authors: plassart s. ACR Open Rheumatol. 2022 Oct;4(10):872-882. doi: 10.1002/acr2.11481. Epub 2022 Jul 22. ACR Open Rheumatol. 2022. PMID: 35869686 Free PMC article.