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Page 1
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.
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A; MIS-C@CHGE; Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY. Sancho-Shimizu V, et al. J Exp Med. 2021 Jun 7;218(6):e20210446. doi: 10.1084/jem.20210446. J Exp Med. 2021. PMID: 33904890 Free PMC article. Review.
Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.
Chen J, Jing H, Martin-Nalda A, Bastard P, Rivière JG, Liu Z, Colobran R, Lee D, Tung W, Manry J, Hasek M, Boucherit S, Lorenzo L, Rozenberg F, Aubart M, Abel L, Su HC, Soler Palacin P, Casanova JL, Zhang SY. Chen J, et al. Among authors: lee d. J Exp Med. 2021 Dec 6;218(12):e20211349. doi: 10.1084/jem.20211349. Epub 2021 Nov 2. J Exp Med. 2021. PMID: 34726731 Free PMC article.
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort; Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL. Zhang Q, et al. Among authors: lee d. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. J Exp Med. 2022. PMID: 35708626 Free PMC article.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Türel Ö, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guérin A, Bastard P, Moncada-Vélez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Pérez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudée C, Paz MEJ, González ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martínez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Lévy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Béziat V, Lachmann N, Langlais D, Casanova JL, Gros P, Bustamante J. Rosain J, et al. Among authors: lee d. Cell. 2023 Feb 2;186(3):621-645.e33. doi: 10.1016/j.cell.2022.12.038. Cell. 2023. PMID: 36736301 Free PMC article.
Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.
Liu Z, Garcia Reino EJ, Harschnitz O, Guo H, Chan YH, Khobrekar NV, Hasek ML, Dobbs K, Rinchai D, Materna M, Matuozzo D, Lee D, Bastard P, Chen J, Lee YS, Kim SK, Zhao S, Amin P, Lorenzo L, Seeleuthner Y, Chevalier R, Mazzola L, Gay C, Stephan JL, Milisavljevic B, Boucherit S, Rozenberg F, Perez de Diego R, Dix RD, Marr N, Béziat V, Cobat A, Aubart M, Abel L, Chabrier S, Smith GA, Notarangelo LD, Mocarski ES, Studer L, Casanova JL, Zhang SY. Liu Z, et al. Among authors: lee d, lee ys. Sci Immunol. 2023 Apr 21;8(82):eade2860. doi: 10.1126/sciimmunol.ade2860. Epub 2023 Apr 21. Sci Immunol. 2023. PMID: 37083451 Free PMC article.
Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals.
Peel JN, Yang R, Le Voyer T, Gervais A, Rosain J, Bastard P, Behere A, Cederholm A, Bodansky A, Seeleuthner Y, Conil C, Ding JY, Lei WT, Bizien L, Soudee C, Migaud M, Ogishi M, Yatim A, Lee D, Bohlen J, Perpoint T, Perez L, Messina F, Genet R, Karkowski L, Blot M, Lafont E, Toullec L, Goulvestre C, Mehlal-Sedkaoui S, Sallette J, Martin F, Puel A, Jouanguy E; CONSTANCES cohort; 3C-Dijon Study; Etablissement du Sang study group; Anderson MS, Landegren N, Tiberghien P, Abel L, Boisson-Dupuis S, Bustamante J, Ku CL, Casanova JL. Peel JN, et al. Among authors: lee d. J Clin Invest. 2024 Mar 12;134(8):e178263. doi: 10.1172/JCI178263. J Clin Invest. 2024. PMID: 38470480 Free PMC article.
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