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Page 1
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O, Gruber C, Randolph HE, Patel R, Ramba M, Calzoni E, Huang LH, Levy J, Buta S, Lee A, Sazeides C, Prue Z, Hoytema van Konijnenburg DP, Chinn IK, Pedroza LA, Lupski JR, Schmitt EG, Cooper MA, Puel A, Peng X, Boisson-Dupuis S, Bustamante J, Okada S, Martin-Fernandez M, Orange JS, Casanova JL, Milner JD, Bogunovic D. Stewart O, et al. Among authors: casanova jl. Nature. 2025 Jan 1. doi: 10.1038/s41586-024-08346-4. Online ahead of print. Nature. 2025. PMID: 39743591
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F, Le Pen J, de Weerd NA, Moncada-Velez M, Materna M, Lin DC, Milisavljevic B, Vianna F, Bizien L, Lorenzo L, Lecuit M, Pommier JD, Keles S, Ozcelik T, Pedraza-Sanchez S, de Prost N, El Zein L, Hammoud H, Ng LFP, Halwani R, Saheb Sharif-Askari N, Lau YL, Tam AR, Singh N, Bhattad S, Berkun Y, Chantratita W, Aguilar-López R, Shahrooei M; COVID-19 HGE Consortium; SEAe Consortium; Abel L, Bastard P, Jouanguy E, Béziat V, Zhang P, Rice CM, Cobat A, Zhang SY, Hertzog PJ, Casanova JL, Zhang Q. Al Qureshah F, et al. Among authors: casanova jl. J Exp Med. 2025 Feb 3;222(2):e20241413. doi: 10.1084/jem.20241413. Epub 2024 Dec 16. J Exp Med. 2025. PMID: 39680367 Free PMC article.
Elevated levels of intracellular RNA lariats suppress the antiviral response.
Duan C, Buerer L, Bowers C, Taggart AJ, O'Brien MH, Gunasekera S, Lin CL, Wang J, Staley JP, Fredericks AM, Monaghan SF, Welch A, Clark NE, Gao D, Marr N, Zhang SY, Casanova JL, Fairbrother WG. Duan C, et al. Among authors: casanova jl. bioRxiv [Preprint]. 2024 Dec 8:2024.12.07.627371. doi: 10.1101/2024.12.07.627371. bioRxiv. 2024. PMID: 39677789 Free PMC article. Preprint.
Human DBR1 deficiency impairs stress granule-dependent PKR antiviral immunity.
Ru S, Tang S, Xu H, Yin J, Guo Y, Song L, Jin Z, Lee D, Chan YH, Chen X, Buerer L, Fairbrother W, Jia W, Casanova JL, Zhang SY, Gao D. Ru S, et al. Among authors: casanova jl. J Exp Med. 2025 Jan 6;222(1):e20240010. doi: 10.1084/jem.20240010. Epub 2024 Dec 5. J Exp Med. 2025. PMID: 39636299
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells.
Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS. Rao G, et al. Among authors: casanova jl. J Allergy Clin Immunol. 2024 Nov 30:S0091-6749(24)01283-1. doi: 10.1016/j.jaci.2024.11.031. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39622295
Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19.
Sbruzzi RC, Prado MJ, Fam B, Prolla HA, Hellwig A, Motta Rodrigues G, de-Paris F, Jobim M, Artigalás O, Seeleuthner Y, Casanova JL, Bustamante J, Vianna FSL. Sbruzzi RC, et al. Among authors: casanova jl. Front Immunol. 2024 Nov 13;15:1472957. doi: 10.3389/fimmu.2024.1472957. eCollection 2024. Front Immunol. 2024. PMID: 39611146 Free PMC article.
Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling.
Ogishi M, Kitaoka K, Good-Jacobson KL, Rinchai D, Zhang B, Wang J, Gies V, Rao G, Nguyen T, Avery DT, Khan T, Smithmyer ME, Mackie J, Yang R, Arias AA, Asano T, Ponsin K, Chaldebas M, Zhang P, Peel JN, Bohlen J, Lévy R, Pelham SJ, Lei WT, Han JE, Fagniez I, Chrabieh M, Laine C, Langlais D, Gruber C, Al Ali F, Rahman M, Aytekin C, Benson B, Dufort MJ, Domingo-Vila C, Moriya K, Shlomchik M, Uzel G, Gray PE, Suan D, Preece K, Chua I, Okada S, Chikuma S, Kiyonari H, Tree TI, Bogunovic D, Gros P, Marr N, Speake C, Oram RA, Béziat V, Bustamante J, Abel L, Boisson B, Korganow AS, Ma CS, Johnson MB, Chamoto K, Boisson-Dupuis S, Honjo T, Casanova JL, Tangye SG. Ogishi M, et al. Among authors: casanova jl. Immunity. 2024 Dec 10;57(12):2790-2807.e15. doi: 10.1016/j.immuni.2024.10.014. Epub 2024 Nov 26. Immunity. 2024. PMID: 39603236
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sanc… See abstract for full author list ➔ Bellos E, et al. Among authors: casanova jl. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
1,061 results