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Page 1
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Among authors: perez de diego r. Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. Hum Mol Genet. 2019. PMID: 30329057 Free PMC article. No abstract available.
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.
Pérez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, Herman M, Cardon A, Durandy A, Bustamante J, Vallabhapurapu S, Bravo J, Warnatz K, Chaix Y, Cascarrigny F, Lebon P, Rozenberg F, Karin M, Tardieu M, Al-Muhsen S, Jouanguy E, Zhang SY, Abel L, Casanova JL. Pérez de Diego R, et al. Immunity. 2010 Sep 24;33(3):400-11. doi: 10.1016/j.immuni.2010.08.014. Epub 2010 Sep 9. Immunity. 2010. PMID: 20832341 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: perez de diego r. 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.
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.
Sancho-Shimizu V, Pérez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL. Sancho-Shimizu V, et al. Among authors: perez de diego r. J Clin Invest. 2011 Dec;121(12):4889-902. doi: 10.1172/JCI59259. Epub 2011 Nov 21. J Clin Invest. 2011. PMID: 22105173 Free PMC article.
Inborn errors of anti-viral interferon immunity in humans.
Sancho-Shimizu V, Perez de Diego R, Jouanguy E, Zhang SY, Casanova JL. Sancho-Shimizu V, et al. Among authors: perez de diego r. Curr Opin Virol. 2011 Dec;1(6):487-96. doi: 10.1016/j.coviro.2011.10.016. Curr Opin Virol. 2011. PMID: 22347990 Free PMC article. Review.
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: perez de diego r. 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.
TLR3 immunity to infection in mice and humans.
Zhang SY, Herman M, Ciancanelli MJ, Pérez de Diego R, Sancho-Shimizu V, Abel L, Casanova JL. Zhang SY, et al. Among authors: perez de diego r. Curr Opin Immunol. 2013 Feb;25(1):19-33. doi: 10.1016/j.coi.2012.11.001. Epub 2013 Jan 3. Curr Opin Immunol. 2013. PMID: 23290562 Free PMC article. Review.
The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis.
Pérez de Diego R, Mulvey C, Crawford M, Trotter MW, Lorenzo L, Sancho-Shimizu V, Abel L, Zhang SY, Casanova JL, Godovac-Zimmermann J. Pérez de Diego R, et al. J Allergy Clin Immunol. 2013 Apr;131(4):1157-66. doi: 10.1016/j.jaci.2013.01.008. Epub 2013 Feb 21. J Allergy Clin Immunol. 2013. PMID: 23434283 Free PMC article.
Proteomics in immunity and herpes simplex encephalitis.
Pérez de Diego R, Mulvey C, Casanova JL, Godovac-Zimmermann J. Pérez de Diego R, et al. Expert Rev Proteomics. 2014 Feb;11(1):21-9. doi: 10.1586/14789450.2014.864954. Epub 2013 Dec 18. Expert Rev Proteomics. 2014. PMID: 24351021 Free PMC article. Review.
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.
Pérez de Diego R, Sánchez-Ramón S, López-Collazo E, Martínez-Barricarte R, Cubillos-Zapata C, Ferreira Cerdán A, Casanova JL, Puel A. Pérez de Diego R, et al. J Allergy Clin Immunol. 2015 Nov;136(5):1139-49. doi: 10.1016/j.jaci.2015.06.031. Epub 2015 Aug 12. J Allergy Clin Immunol. 2015. PMID: 26277595 Free PMC article. Review.
74 results