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Page 1
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.
Lafaille FG, Pessach IM, Zhang SY, Ciancanelli MJ, Herman M, Abhyankar A, Ying SW, Keros S, Goldstein PA, Mostoslavsky G, Ordovas-Montanes J, Jouanguy E, Plancoulaine S, Tu E, Elkabetz Y, Al-Muhsen S, Tardieu M, Schlaeger TM, Daley GQ, Abel L, Casanova JL, Studer L, Notarangelo LD. Lafaille FG, et al. Among authors: abhyankar a. Nature. 2012 Nov 29;491(7426):769-73. doi: 10.1038/nature11583. Epub 2012 Oct 28. Nature. 2012. PMID: 23103873 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: abhyankar a. 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.
The human gene connectome as a map of short cuts for morbid allele discovery.
Itan Y, Zhang SY, Vogt G, Abhyankar A, Herman M, Nitschke P, Fried D, Quintana-Murci L, Abel L, Casanova JL. Itan Y, et al. Among authors: abhyankar a. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18. Proc Natl Acad Sci U S A. 2013. PMID: 23509278 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: abhyankar a. 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.
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.
Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL. Bogunovic D, et al. Among authors: abhyankar a. Science. 2012 Sep 28;337(6102):1684-8. doi: 10.1126/science.1224026. Epub 2012 Aug 2. Science. 2012. PMID: 22859821 Free PMC article.
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.
Crequer A, Picard C, Patin E, D'Amico A, Abhyankar A, Munzer M, Debré M, Zhang SY, de Saint-Basile G, Fischer A, Abel L, Orth G, Casanova JL, Jouanguy E. Crequer A, et al. Among authors: abhyankar a. PLoS One. 2012;7(8):e44010. doi: 10.1371/journal.pone.0044010. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952854 Free PMC article.
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: abhyankar a. Cell. 2017 Feb 23;168(5):789-800.e10. doi: 10.1016/j.cell.2017.01.039. Cell. 2017. PMID: 28235196 Free PMC article.
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E. Crequer A, et al. Among authors: abhyankar a. J Clin Invest. 2012 Sep;122(9):3239-47. doi: 10.1172/JCI62949. Epub 2012 Aug 1. J Clin Invest. 2012. PMID: 22850876 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: abhyankar a. 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.
174 results