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Page 1
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
Israel L, Wang Y, Bulek K, Della Mina E, Zhang Z, Pedergnana V, Chrabieh M, Lemmens NA, Sancho-Shimizu V, Descatoire M, Lasseau T, Israelsson E, Lorenzo L, Yun L, Belkadi A, Moran A, Weisman LE, Vandenesch F, Batteux F, Weller S, Levin M, Herberg J, Abhyankar A, Prando C, Itan Y, van Wamel WJB, Picard C, Abel L, Chaussabel D, Li X, Beutler B, Arkwright PD, Casanova JL, Puel A. Israel L, et al. Among authors: chaussabel d. Cell. 2017 Feb 23;168(5):789-800.e10. doi: 10.1016/j.cell.2017.01.039. Cell. 2017. PMID: 28235196 Free PMC article.
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4.
Alsina L, Israelsson E, Altman MC, Dang KK, Ghandil P, Israel L, von Bernuth H, Baldwin N, Qin H, Jin Z, Banchereau R, Anguiano E, Ionan A, Abel L, Puel A, Picard C, Pascual V, Casanova JL, Chaussabel D. Alsina L, et al. Among authors: chaussabel d. Nat Immunol. 2014 Dec;15(12):1134-42. doi: 10.1038/ni.3028. Epub 2014 Oct 26. Nat Immunol. 2014. PMID: 25344726 Free PMC article.
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.
Della Mina E, Borghesi A, Zhou H, Bougarn S, Boughorbel S, Israel L, Meloni I, Chrabieh M, Ling Y, Itan Y, Renieri A, Mazzucchelli I, Basso S, Pavone P, Falsaperla R, Ciccone R, Cerbo RM, Stronati M, Picard C, Zuffardi O, Abel L, Chaussabel D, Marr N, Li X, Casanova JL, Puel A. Della Mina E, et al. Among authors: chaussabel d. Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E514-E523. doi: 10.1073/pnas.1620139114. Epub 2017 Jan 9. Proc Natl Acad Sci U S A. 2017. PMID: 28069966 Free PMC article.
Pyogenic bacterial infections in humans with MyD88 deficiency.
von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Aróstegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yagüe J, Antón J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Maródi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL. von Bernuth H, et al. Among authors: chaussabel d. Science. 2008 Aug 1;321(5889):691-6. doi: 10.1126/science.1158298. Science. 2008. PMID: 18669862 Free PMC article.
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.
Guo Y, Audry M, Ciancanelli M, Alsina L, Azevedo J, Herman M, Anguiano E, Sancho-Shimizu V, Lorenzo L, Pauwels E, Philippe PB, Pérez de Diego R, Cardon A, Vogt G, Picard C, Andrianirina ZZ, Rozenberg F, Lebon P, Plancoulaine S, Tardieu M, Valérie Doireau, Jouanguy E, Chaussabel D, Geissmann F, Abel L, Casanova JL, Zhang SY. Guo Y, et al. Among authors: chaussabel d. J Exp Med. 2011 Sep 26;208(10):2083-98. doi: 10.1084/jem.20101568. Epub 2011 Sep 12. J Exp Med. 2011. PMID: 21911422 Free PMC article.
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.
Herman M, Ciancanelli M, Ou YH, Lorenzo L, Klaudel-Dreszler M, Pauwels E, Sancho-Shimizu V, Pérez de Diego R, Abhyankar A, Israelsson E, Guo Y, Cardon A, Rozenberg F, Lebon P, Tardieu M, Heropolitanska-Pliszka E, Chaussabel D, White MA, Abel L, Zhang SY, Casanova JL. Herman M, et al. Among authors: chaussabel d. J Exp Med. 2012 Aug 27;209(9):1567-82. doi: 10.1084/jem.20111316. Epub 2012 Jul 30. J Exp Med. 2012. PMID: 22851595 Free PMC article.
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. Boisson B, et al. Among authors: chaussabel d. Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28. Nat Immunol. 2012. PMID: 23104095 Free PMC article.
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S. Kong XF, et al. Among authors: chaussabel d. Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161749 Free PMC article.
Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.
Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, Picard C, Ringuier B, Troussier F, Chaussabel D, Abel L, Pellier I, Notarangelo LD, García-Sastre A, Basler CF, Geissmann F, Zhang SY, Snoeck HW, Casanova JL. Ciancanelli MJ, et al. Among authors: chaussabel d. Science. 2015 Apr 24;348(6233):448-53. doi: 10.1126/science.aaa1578. Epub 2015 Mar 26. Science. 2015. PMID: 25814066 Free PMC article.
TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons.
Gao D, Ciancanelli MJ, Zhang P, Harschnitz O, Bondet V, Hasek M, Chen J, Mu X, Itan Y, Cobat A, Sancho-Shimizu V, Bigio B, Lorenzo L, Ciceri G, McAlpine J, Anguiano E, Jouanguy E, Chaussabel D, Meyts I, Diamond MS, Abel L, Hur S, Smith GA, Notarangelo L, Duffy D, Studer L, Casanova JL, Zhang SY. Gao D, et al. Among authors: chaussabel d. J Clin Invest. 2021 Jan 4;131(1):e134529. doi: 10.1172/JCI134529. J Clin Invest. 2021. PMID: 33393505 Free PMC article.
176 results