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Page 1
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church JA, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Maródi L, Szücs G, Broides A, Nahum A, Levy J, Kettunen KM, Daddali R Ravi, Seppänen MRJ, Vänttinen M, Martelius T, Grönholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ES, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarström Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N. Knox AVC, et al. Among authors: casanova jl. Blood. 2025 Jan 24:blood.2024026683. doi: 10.1182/blood.2024026683. Online ahead of print. Blood. 2025. PMID: 39854693
Mycobacterium tuberculosis resisters despite HIV exhibit activated T cells and macrophages in their pulmonary alveoli.
Dallmann-Sauer M, Fava VM, Malherbe ST, MacDonald CE, Orlova M, Kroon EE, Cobat A, Boisson-Dupuis S, Hoal EG, Abel L, Möller M, Casanova JL, Walzl G, Du Plessis N, Schurr E. Dallmann-Sauer M, et al. Among authors: casanova jl. J Clin Invest. 2025 Jan 21:e188016. doi: 10.1172/JCI188016. Online ahead of print. J Clin Invest. 2025. PMID: 39836471 Free article.
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Le Voyer T, Debray JC, Stolzenberg MC, Schmutz M, Pellé O, Becquard T, Rodrigo Riestra M, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Bretot C, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. Among authors: casanova jl. J Exp Med. 2025 Feb 3;222(2):e20240843. doi: 10.1084/jem.20240843. Epub 2025 Jan 15. J Exp Med. 2025. PMID: 39812688
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
1,066 results