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1 |
Material Type: Artigo
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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiencyJohnson, Matthew B ; Ogishi, Masato ; Domingo-Vila, Clara ; De Franco, Elisa ; Wakeling, Matthew N ; Imane, Zineb ; Resnick, Brittany ; Williams, Evangelia ; Galão, Rui Pedro ; Caswell, Richard ; Russ-Silsby, James ; Seeleuthner, Yoann ; Rinchai, Darawan ; Fagniez, Iris ; Benson, Basilin ; Dufort, Matthew J ; Speake, Cate ; Smithmyer, Megan E ; Hudson, Michelle ; Dobbs, Rebecca ; Quandt, Zoe ; Hattersley, Andrew T ; Zhang, Peng ; Boisson-Dupuis, Stephanie ; Anderson, Mark S ; Casanova, Jean-Laurent ; Tree, Timothy I ; Oram, Richard AThe Journal of experimental medicine, 2024-06, Vol.221 (6) [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiencyCasanova, Jean-Laurent ; Tree, Timothy ; Oram, Richard ; Johnson, Matthew ; Ogishi, Masato ; Domingo-Vila, Clara ; De Franco, Elisa ; Wakeling, Matthew ; Imane, Zineb ; Resnick, Brittany ; Williams, Evangelia ; Galão, Rui ; Caswell, Richard ; Russ-Silsby, James ; Seeleuthner, Yoann ; Rinchai, Darawan ; Fagniez, Iris ; Benson, Basilin ; Dufort, Matthew ; Speake, Cate ; Smithmyer, Megan ; Hudson, Michelle ; Dobbs, Rebecca ; Hattersley, Andrew ; Zhang, Peng ; Boisson-Dupuis, Stephanie ; Anderson, Mark ; Quandt, ZoeJournal of Experimental Medicine, 2024-06, Vol.221 (6)eScholarship, University of CaliforniaSem texto completo |
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Material Type: Artigo
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitisHoresh, Michael E ; Martin-Fernandez, Marta ; Gruber, Conor ; Buta, Sofija ; Le Voyer, Tom ; Puzenat, Eve ; Lesmana, Harry ; Wu, Yiming ; Richardson, Ashley ; Stein, David ; Hodeib, Stephanie ; Youssef, Mariam ; Kurowski, Jacob A ; Feuille, Elizabeth ; Pedroza, Luis A ; Fuleihan, Ramsay L ; Haseley, Alexandria ; Hovnanian, Alain ; Quartier, Pierre ; Rosain, Jérémie ; Davis, Georgina ; Mullan, Daniel ; Stewart, O'Jay ; Patel, Roosheel ; Lee, Angelica E ; Rubinstein, Rebecca ; Ewald, Leyla ; Maheshwari, Nikhil ; Rahming, Virginia ; Chinn, Ivan K ; Lupski, James R ; Orange, Jordan S ; Sancho-Shimizu, Vanessa ; Casanova, Jean-Laurent ; Abul-Husn, Noura S ; Itan, Yuval ; Milner, Joshua D ; Bustamante, Jacinta ; Bogunovic, DusanThe Journal of experimental medicine, 2024-06, Vol.221 (6) [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitisHoresh, Michael E ; Martin-Fernandez, Marta ; Gruber, Conor ; Buta, Sofija ; Le Voyer, Tom ; Puzenat, Eve ; Lesmana, Harry ; Wu, Yiming ; Richardson, Ashley ; Stein, David ; Hodeib, Stephanie ; Youssef, Mariam ; Kurowski, Jacob A ; Feuille, Elizabeth ; Pedroza, Luis A ; Fuleihan, Ramsay L ; Haseley, Alexandria ; Hovnanian, Alain ; Quartier, Pierre ; Rosain, Jérémie ; Davis, Georgina ; Mullan, Daniel ; Stewart, O'Jay ; Patel, Roosheel ; Lee, Angelica E ; Rubinstein, Rebecca ; Ewald, Leyla ; Maheshwari, Nikhil ; Rahming, Virginia ; Chinn, Ivan K ; Lupski, James R ; Orange, Jordan S ; Sancho-Shimizu, Vanessa ; Casanova, Jean-Laurent ; Abul-Husn, Noura S ; Itan, Yuval ; Milner, Joshua D ; Bustamante, Jacinta ; Bogunovic, DusanThe Journal of experimental medicine, 2024-06, Vol.221 (6) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
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Material Type: Artigo
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Helper T cell immunity in humans with inherited CD4 deficiencyGuérin, Antoine ; Moncada-Vélez, Marcela ; Jackson, Katherine ; Ogishi, Masato ; Rosain, Jérémie ; Mancini, Mathieu ; Langlais, David ; Nunez, Andrea ; Webster, Samantha ; Goyette, Jesse ; Khan, Taushif ; Marr, Nico ; Avery, Danielle T ; Rao, Geetha ; Waterboer, Tim ; Michels, Birgitta ; Neves, Esmeralda ; Iracema Morais, Cátia ; London, Jonathan ; Mestrallet, Stéphanie ; Quartier Dit Maire, Pierre ; Neven, Bénédicte ; Rapaport, Franck ; Seeleuthner, Yoann ; Lev, Atar ; Simon, Amos J ; Montoya, Jorge ; Barel, Ortal ; Gómez-Rodríguez, Julio ; Orrego, Julio C ; L'Honneur, Anne-Sophie ; Soudée, Camille ; Rojas, Jessica ; Velez, Alejandra C ; Sereti, Irini ; Terrier, Benjamin ; Marin, Nancy ; García, Luis F ; Abel, Laurent ; Boisson-Dupuis, Stéphanie ; Reis, Joel ; Marinho, Antonio ; Lisco, Andrea ; Faria, Emilia ; Goodnow, Christopher C ; Vasconcelos, Julia ; Béziat, Vivien ; Ma, Cindy S ; Somech, Raz ; Casanova, Jean-Laurent ; Bustamante, Jacinta ; Franco, Jose Luis ; Tangye, Stuart GThe Journal of experimental medicine, 2024-05, Vol.221 (5) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
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Material Type: Artigo
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The ouroboros of autoimmunityCasanova, Jean-Laurent ; Peel, Jessica ; Donadieu, Jean ; Neehus, Anna-Lena ; Puel, Anne ; Bastard, PaulNature immunology, 2024-05, Vol.25 (5), p.743-754 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic reviewKhavandegar, Armin ; Mahdaviani, Seyed Alireza ; Zaki-Dizaji, Majid ; Khalili-Moghaddam, Fereshteh ; Ansari, Sarina ; Alijani, Saba ; Taherzadeh-Ghahfarrokhi, Nooshin ; Mansouri, Davood ; Casanova, Jean-Laurent ; Bustamante, Jacinta ; Jamee, MahnazJournal of allergy and clinical immunology, 2024-05, Vol.153 (5), p.1432-1444 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
Material Type: Artigo
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108 PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patternsKnox, Ainsley ; Platt, Craig ; Casanova, Jean-Laurent ; Seppänen, Mikko ; Sullivan, Kathleen ; Dutmer, Cullen ; Goddard, Sarah ; James, Elliot ; Dhamija, Radhika ; Shinawi, Marwan ; Barzaghi, Federica ; Boztug, Kaan ; Rosenzweig, Sergio ; Stojanovic, Maja ; Grönholm, Juha ; Arlabosse, Tiphaine ; Esty, Brittany ; Broides, Arnon ; Boisson, Bertrand ; Romberg, NeilClinical immunology (Orlando, Fla.), 2024-05, Vol.262 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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9 |
Material Type: Artigo
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94 Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulationRiller, Quentin ; Sorin, Boris ; Courteille, Charline ; Voyer, Tom Le ; Pellé, Olivier ; Stolzenberg, Marie-Claude ; Jeanpierre, Marie ; Becquard, Thomas ; Boussard, Charlotte ; Michel, Victor ; Rodrigo-Riestra, Maria ; Picard, Capucine ; Corneau, Aurélien ; Meyts, Isabelle ; Baud, Veronique ; Fischer, Alain ; Puel, Anne ; Casanova, Jean-Laurent ; Boulanger, Cécile ; Neven, Bénédicte ; Rieux-Laucat, FrédéricClinical immunology (Orlando, Fla.), 2024-05, Vol.262 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiencyOda, Hirotsugu ; Manthiram, Kalpana ; Chavan, Pallavi Pimpale ; Rieser, Eva ; Veli, Önay ; Kaya, Öykü ; Rauch, Charles ; Nakabo, Shuichiro ; Kuehn, Hye Sun ; Swart, Mariël ; Wang, Yanli ; Çelik, Nisa Ilgim ; Molitor, Anne ; Ziaee, Vahid ; Movahedi, Nasim ; Shahrooei, Mohammad ; Parvaneh, Nima ; Alipour-Olyei, Nasrin ; Carapito, Raphael ; Xu, Qin ; Preite, Silvia ; Beck, David B ; Chae, Jae Jin ; Nehrebecky, Michele ; Ombrello, Amanda K ; Hoffmann, Patrycja ; Romeo, Tina ; Deuitch, Natalie T ; Matthíasardóttir, Brynja ; Mullikin, James ; Komarow, Hirsh ; Stoddard, Jennifer ; Niemela, Julie ; Dobbs, Kerry ; Sweeney, Colin L ; Anderton, Holly ; Lawlor, Kate E ; Yoshitomi, Hiroyuki ; Yang, Dan ; Boehm, Manfred ; Davis, Jeremy ; Mudd, Pamela ; Randazzo, Davide ; Tsai, Wanxia Li ; Gadina, Massimo ; Kaplan, Mariana J ; Toguchida, Junya ; Mayer, Christian T ; Rosenzweig, Sergio D ; Notarangelo, Luigi D ; Iwai, Kazuhiro ; Silke, John ; Schwartzberg, Pamela L ; Boisson, Bertrand ; Casanova, Jean-Laurent ; Bahram, Seiamak ; Rao, Anand Prahalad ; Peltzer, Nieves ; Walczak, Henning ; Lalaoui, Najoua ; Aksentijevich, Ivona ; Kastner, Daniel LNature immunology, 2024-05, Vol.25 (5), p.764-777 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |