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Page 1
Homozygous V377I mutation causing mevalonate kinase.
Brito T, Banganho D, Pedrosa C, Farela Neves J. Brito T, et al. Among authors: farela neves j. BMJ Case Rep. 2022 Apr 6;15(4):e249135. doi: 10.1136/bcr-2022-249135. BMJ Case Rep. 2022. PMID: 35387795 Free PMC article.
The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.
Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B. Staus P, et al. Among authors: farela neves j. J Clin Immunol. 2023 Aug;43(6):1289-1301. doi: 10.1007/s10875-023-01472-0. Epub 2023 Apr 21. J Clin Immunol. 2023. PMID: 37084016 Free PMC article.
Kingella kingae: An Unlikely Cause of Meningitis.
Almeida Borges M, Silva S, Ferreira R, Martins C, Paixão P, Rodrigues V, Farela Neves J. Almeida Borges M, et al. Among authors: farela neves j. Pediatr Infect Dis J. 2021 Jun 1;40(6):e247-e249. doi: 10.1097/INF.0000000000003112. Pediatr Infect Dis J. 2021. PMID: 33657600
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.
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