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1
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
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Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

Horesh, 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, Dusan

The Journal of experimental medicine, 2024-06, Vol.221 (6) [Periódico revisado por pares]

United States: Rockefeller University Press

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2
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency
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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency

Johnson, 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 A

The Journal of experimental medicine, 2024-06, Vol.221 (6) [Periódico revisado por pares]

United States

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3
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

Horesh, 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, Dusan

The Journal of experimental medicine, 2024-06, Vol.221 (6) [Periódico revisado por pares]

United States

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4
Helper T cell immunity in humans with inherited CD4 deficiency
Helper T cell immunity in humans with inherited CD4 deficiency
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Helper T cell immunity in humans with inherited CD4 deficiency

Guérin, 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 G

The Journal of experimental medicine, 2024-05, Vol.221 (5) [Periódico revisado por pares]

United States: Rockefeller University Press

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5
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review
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Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review

Khavandegar, 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, Mahnaz

Journal of allergy and clinical immunology, 2024-05, Vol.153 (5), p.1432-1444 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Interferon- γ and infectious diseases: Lessons and prospects
Interferon- γ and infectious diseases: Lessons and prospects
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Interferon- γ and infectious diseases: Lessons and prospects

Casanova, Jean-Laurent ; MacMicking, John D ; Nathan, Carl F

Science (American Association for the Advancement of Science), 2024-04, Vol.384 (6693), p.eadl2016-eadl2016 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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7
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency
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Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency

Martin, Emmanuel ; Winter, Sarah ; Garcin, Cécile ; Tanita, Kay ; Hoshino, Akihiro ; Lenoir, Christelle ; Fournier, Benjamin ; Migaud, Mélanie ; Boutboul, David ; Simonin, Mathieu ; Fernandes, Alicia ; Bastard, Paul ; Le Voyer, Tom ; Roupie, Anne-Laure ; Ben Ahmed, Yassine ; Leruez-Ville, Marianne ; Burgard, Marianne ; Rao, Geetha ; Ma, Cindy S ; Masson, Cécile ; Soudais, Claire ; Picard, Capucine ; Bustamante, Jacinta ; Tangye, Stuart G ; Cheikh, Nathalie ; Seppänen, Mikko ; Puel, Anne ; Daly, Mark ; Casanova, Jean-Laurent ; Neven, Bénédicte ; Fischer, Alain ; Latour, Sylvain

Nature (London), 2024-04, Vol.628 (8008), p.620-4 [Periódico revisado por pares]

England: Nature Publishing Group

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8
IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant
IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant
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IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant

García-Solís, Blanca ; Tapia-Torres, María ; García-Soidán, Ana ; Hernández-Brito, Elisa ; Martínez-Saavedra, María Teresa ; Lorenzo-Salazar, José M. ; García-Hernández, Sonia ; Van Den Rym, Ana ; Mayani, Karan ; Govantes-Rodríguez, José Vicente ; Gervais, Adrian ; Bastard, Paul ; Puel, Anne ; Casanova, Jean-Laurent ; Flores, Carlos ; Pérez de Diego, Rebeca ; Rodríguez-Gallego, Carlos

Journal of allergy and clinical immunology, 2024-04 [Periódico revisado por pares]

United States: Elsevier Inc

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9
A Late Pleistocene coastal ecosystem in French Guiana was hyperdiverse relative to today
A Late Pleistocene coastal ecosystem in French Guiana was hyperdiverse relative to today
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A Late Pleistocene coastal ecosystem in French Guiana was hyperdiverse relative to today

Antoine, Pierre-Olivier ; Wieringa, Linde N ; Adnet, Sylvain ; Aguilera, Orangel ; Bodin, Stéphanie C ; Cairns, Stephen ; Conejeros-Vargas, Carlos A ; Cornée, Jean-Jacques ; Ežerinskis, Žilvinas ; Fietzke, Jan ; Gribenski, Natacha O ; Grouard, Sandrine ; Hendy, Austin ; Hoorn, Carina ; Joannes-Boyau, Renaud ; Langer, Martin R ; Luque, Javier ; Marivaux, Laurent ; Moissette, Pierre ; Nooren, Kees ; Quillévéré, Frédéric ; Šapolaitė, Justina ; Sciumbata, Matteo ; Valla, Pierre G ; Witteveen, Nina H ; Casanova, Alexandre ; Clavier, Simon ; Bidgrain, Philibert ; Gallay, Marjorie ; Rhoné, Mathieu ; Heuret, Arnauld

Proceedings of the National Academy of Sciences - PNAS, 2024-04, Vol.121 (14), p.e2311597121-e2311597121 [Periódico revisado por pares]

United States: National Academy of Sciences

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10
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
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The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Materna, Marie ; Delmonte, Ottavia M ; Bosticardo, Marita ; Momenilandi, Mana ; Conrey, Peyton E ; Charmeteau-De Muylder, Bénédicte ; Bravetti, Clotilde ; Bellworthy, Rebecca ; Cederholm, Axel ; Staels, Frederik ; Ganoza, Christian A ; Darko, Samuel ; Sayed, Samir ; Le Floc'h, Corentin ; Ogishi, Masato ; Rinchai, Darawan ; Guenoun, Andrea ; Bolze, Alexandre ; Khan, Taushif ; Gervais, Adrian ; Krüger, Renate ; Völler, Mirjam ; Palterer, Boaz ; Sadeghi-Shabestari, Mahnaz ; Langlois de Septenville, Anne ; Schramm, Chaim A ; Shah, Sanjana ; Tello-Cajiao, John J ; Pala, Francesca ; Amini, Kayla ; Campos, Jose S ; Lima, Noemia Santana ; Eriksson, Daniel ; Lévy, Romain ; Seeleuthner, Yoann ; Jyonouchi, Soma ; Ata, Manar ; Al Ali, Fatima ; Stittrich, Anna ; Deswarte, Caroline ; Pereira, Anaïs ; Mégret, Jérôme ; Le Voyer, Tom ; Bastard, Paul ; Berteloot, Laureline ; Dussiot, Michaël ; Vladikine, Natasha ; Cardenas, Paula P ; Jouanguy, Emmanuelle ; Alqahtani, Mashael ; Hasan, Amal ; Thanaraj, Thangavel Alphonse ; Rosain, Jérémie ; Al Qureshah, Fahd ; Sabato, Vito ; Alyanakian, Marie Alexandra ; Leruez-Ville, Marianne ; Rozenberg, Flore ; Haddad, Elie ; Regueiro, Jose R ; Toribio, Maria L ; Kelsen, Judith R ; Salehi, Mansoor ; Nasiri, Shahram ; Torabizadeh, Mehdi ; Rokni-Zadeh, Hassan ; Changi-Ashtiani, Majid ; Vatandoost, Nasimeh ; Moravej, Hossein ; Akrami, Seyed Mohammad ; Mazloomrezaei, Mohsen ; Cobat, Aurélie ; Meyts, Isabelle ; Toyofuku, Etsushi ; Nishimura, Madoka ; Moriya, Kunihiko ; Mizukami, Tomoyuki ; Imai, Kohsuke ; Abel, Laurent ; Malissen, Bernard ; Al-Mulla, Fahd ; Alkuraya, Fowzan Sami ; Parvaneh, Nima ; von Bernuth, Horst ; Beetz, Christian ; Davi, Frédéric ; Douek, Daniel C ; Cheynier, Rémi ; Langlais, David ; Landegren, Nils ; Marr, Nico ; Morio, Tomohiro ; Shahrooei, Mohammad ; Schrijvers, Rik ; Henrickson, Sarah E ; Luche, Hervé ; Notarangelo, Luigi D ; Casanova, Jean-Laurent ; Béziat, Vivien

Science (American Association for the Advancement of Science), 2024-03, Vol.383 (6686), p.eadh4059-eadh4059 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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