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203 results

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Page 1
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arango-Franco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Berndt MC, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martin-Fernandez M, Khan T, Bohlen J, Han JE, Deslys A, Bernard M, Gajardo-Carrasco T, Soudée C, Le Floc'h C, Migaud M, Seeleuthner Y, Jang MS, Nikolouli E, Seyedpour S, Begueret H, Emile JF, Le Guen P, Tavazzi G, Julia Colombo CN, Marzani FC, Angelini M, Trespidi F, Ghirardello S, Alipour N, Molitor A, Carapito R, Mazloomrezaei M, Rokni-Zadeh H, Changi-Ashtiani M, Brouzes C, Vargas P, Borghesi A, Lachmann N, Bahram S, Crestani B, Fayon M, Galode F, Pahari S, Schlesinger LS, Marr N, Bogunovic D, Boisson-Dupuis S, Béziat V, Abel L, Borie R, Young LR, Deterding R, Shahrooei M, Rezaei N, Parvaneh N, Craven D, Gros P, Malo D, Sepulveda FE, Nogee LM, Aladjidi N, Trapnell BC, Casanova JL, Bustamante J. Neehus AL, et al. Among authors: borghesi a. Cell. 2024 Jun 20;187(13):3460. doi: 10.1016/j.cell.2024.05.021. Epub 2024 May 21. Cell. 2024. PMID: 38776920 Free PMC article. No abstract available.
Fulminant echovirus 11 hepatitis in male non-identical twins in northern Italy, April 2023.
Piralla A, Borghesi A, Di Comite A, Giardina F, Ferrari G, Zanette S, Figar TA, Angelini M, Pisoni C, Pitrolo AMG, Paolucci S, Rovida F, Pellicioli I, Bonanomi E, Baldanti F, Ghirardello S. Piralla A, et al. Among authors: borghesi a. Euro Surveill. 2023 Jun;28(24):2300289. doi: 10.2807/1560-7917.ES.2023.28.24.2300289. Euro Surveill. 2023. PMID: 37318763 Free PMC article.
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. 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.
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, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. 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.
Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease.
Gervais A, Bastard P, Bizien L, Delifer C, Tiberghien P, Rodrigo C, Trespidi F, Angelini M, Rossini G, Lazzarotto T, Conti F, Cassaniti I, Baldanti F, Rovida F, Ferrari A, Mileto D, Mancon A, Abel L, Puel A, Cobat A, Rice CM, Cadar D, Schmidt-Chanasit J, Scheid JF, Lemieux JE, Rosenberg ES, Agudelo M, Tangye SG, Borghesi A, Durand GA, Duburcq-Gury E, Valencia BM, Lloyd AR, Nagy A, MacDonald MM, Simonin Y, Zhang SY, Casanova JL. Gervais A, et al. Among authors: borghesi a. J Exp Med. 2024 Dec 2;221(12):e20240942. doi: 10.1084/jem.20240942. Epub 2024 Nov 1. J Exp Med. 2024. PMID: 39485284 Free PMC article.
Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients.
Gervais A, Marchal A, Fortova A, Berankova M, Krbkova L, Pychova M, Salat J, Zhao S, Kerrouche N, Le Voyer T, Stiasny K, Raffl S, Schieber Pachart A, Fafi-Kremer S, Gravier S, Robbiani DF, Abel L, MacDonald MR, Rice CM, Weissmann G, Kamal Eldin T, Robatscher E, Erne EM, Pagani E, Borghesi A, Puel A, Bastard P, Velay A, Martinot M, Hansmann Y, Aberle JH, Ruzek D, Cobat A, Zhang SY, Casanova JL. Gervais A, et al. Among authors: borghesi a. J Exp Med. 2024 Oct 7;221(10):e20240637. doi: 10.1084/jem.20240637. Epub 2024 Sep 24. J Exp Med. 2024. PMID: 39316018 Free PMC article.
Tuberculosis in otherwise healthy adults with inherited TNF deficiency.
Arias AA, Neehus AL, Ogishi M, Meynier V, Krebs A, Lazarov T, Lee AM, Arango-Franco CA, Yang R, Orrego J, Corcini Berndt M, Rojas J, Li H, Rinchai D, Erazo-Borrás L, Han JE, Pillay B, Ponsin K, Chaldebas M, Philippot Q, Bohlen J, Rosain J, Le Voyer T, Janotte T, Amarajeeva K, Soudée C, Brollo M, Wiegmann K, Marquant Q, Seeleuthner Y, Lee D, Lainé C, Kloos D, Bailey R, Bastard P, Keating N, Rapaport F, Khan T, Moncada-Vélez M, Carmona MC, Obando C, Alvarez J, Cataño JC, Martínez-Rosado LL, Sanchez JP, Tejada-Giraldo M, L'Honneur AS, Agudelo ML, Perez-Zapata LJ, Arboleda DM, Alzate JF, Cabarcas F, Zuluaga A, Pelham SJ, Ensser A, Schmidt M, Velásquez-Lopera MM, Jouanguy E, Puel A, Krönke M, Ghirardello S, Borghesi A, Pahari S, Boisson B, Pittaluga S, Ma CS, Emile JF, Notarangelo LD, Tangye SG, Marr N, Lachmann N, Salvator H, Schlesinger LS, Zhang P, Glickman MS, Nathan CF, Geissmann F, Abel L, Franco JL, Bustamante J, Casanova JL, Boisson-Dupuis S. Arias AA, et al. Among authors: borghesi a. Nature. 2024 Sep;633(8029):417-425. doi: 10.1038/s41586-024-07866-3. Epub 2024 Aug 28. Nature. 2024. PMID: 39198650 Free PMC article.
Fat Fraction Extracted from Whole-Body Magnetic Resonance (WB-MR) in Bone Metastatic Prostate Cancer: Intra- and Inter-Reader Agreement of Single-Slice and Volumetric Measurements.
Agazzi GM, Di Meo N, Rondi P, Saeli C, Dalla Volta A, Vezzoli M, Berruti A, Borghesi A, Maroldi R, Ravanelli M, Farina D. Agazzi GM, et al. Among authors: borghesi a. Tomography. 2024 Jun 28;10(7):1014-1023. doi: 10.3390/tomography10070075. Tomography. 2024. PMID: 39058047 Free PMC article.
203 results