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94 Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
94 Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
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94 Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation

Riller, 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, Frédéric

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262 [Periódico revisado por pares]

Elsevier Inc

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2
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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3
108 PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patterns
108 PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patterns
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108 PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patterns

Knox, 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, Neil

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262 [Periódico revisado por pares]

Elsevier Inc

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4
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
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Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Marchal, Astrid ; Cirulli, Elizabeth T. ; Neveux, Iva ; Bellos, Evangelos ; Thwaites, Ryan S. ; Schiabor Barrett, Kelly M. ; Zhang, Yu ; Nemes-Bokun, Ivana ; Kalinova, Mariya ; Catchpole, Andrew ; Tangye, Stuart G. ; Spaan, András N. ; Lack, Justin B. ; Ghosn, Jade ; Burdet, Charles ; Gorochov, Guy ; Tubach, Florence ; Hausfater, Pierre ; Dalgard, Clifton L. ; Zhang, Shen-Ying ; Zhang, Qian ; Chiu, Christopher ; Fellay, Jacques ; Grzymski, Joseph J. ; Sancho-Shimizu, Vanessa ; Abel, Laurent ; Casanova, Jean-Laurent ; Cobat, Aurélie ; Bolze, Alexandre

HGG advances, 2024-04, p.100300-100300, Article 100300 [Periódico revisado por pares]

United States: Elsevier Inc

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5
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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6
Burden of Uncontrolled Severe Asthma With and Without Elevated Type-2 Inflammatory Biomarkers
Burden of Uncontrolled Severe Asthma With and Without Elevated Type-2 Inflammatory Biomarkers
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Burden of Uncontrolled Severe Asthma With and Without Elevated Type-2 Inflammatory Biomarkers

Chen, Stephanie ; Reddel, Helen ; Rabahi, Marcelo ; McIvor, Andrew ; Sadatsafavi, Mohsen ; Devouassoux, Gilles ; Papi, Alberto ; van den Berge, Maarten ; Janson, Christer ; Fagerås, Malin ; Fihn-Wikander, Titti ; Franzén, Stefan ; Ostridge, Kristoffer ; Erhard, Clement ; Hughes, Rod ; Make, Barry ; Ruiz, Xavier Bocca ; Nogueira, Juan ; Svetliza, Graciela ; Rolon, Roxana Willigs ; Farah, Claude ; Hammerschlag, Gary ; Katsoulotos, Gregory ; Langton, David ; Sajkov, Dimitar ; Santiago, Francis ; Delfini Cançado, José Eduardo ; Lima, Marina ; Anees, Syed ; Cheema, Amarjit ; Kelly, Allan ; Mandhane, Piushkumar ; Stollery, Daniel ; Li, Manxiang ; Qin, Guangyue ; Zhang, Wei ; Chouaid, Christos ; de Blic, Jacques ; Deschildre, Antoine ; Kessler, Romain ; Le Roux, Pascal ; Roux-Claudé, Pauline ; Soulier, Michel ; Bals, Robert ; Aries, Sven Philip ; Lienert, Thomas ; Schlenska, Christian ; Stolpe, Christoph ; Ulrich, Thomas ; Barbetta, Carlo ; Cardaci, Vittorio ; Costantino, Maria Teresa ; Gammeri, Enrico ; Hara, Yu ; Ide, Yumiko ; Inomata, Minehiko ; Kato, Motokazu ; Kawayama, Tomotaka ; Tomii, Keisuke ; Rendon, Adrian ; Javier, Ruth Cerino ; Kuppens, Kim ; Brunstad, Ole Petter ; Khusrawi, Alamdar ; Oien, Torbjorn ; Chang, Yoon-Seok ; Cho, Young Joo ; Kim, Woo Jin ; Koh, Young-Il ; Lee, Kwan-Ho ; Park, Heung-Woo ; Rhee, Chin Kook ; García, María Buendía ; Serrano, Carolina Cisneros ; Casanova, Lorena Comeche ; Corbacho, Dolores ; Echave-Sustaeta, Jose ; Clemente, Marta García ; Núñez, Ignacio García ; Robaina, Jose García ; Salmones, Mercedes García ; González-Moro, José Rodríguez ; Garrido, José Velasco ; Luts, Anders ; Cosgrove, John ; Fuller, Elizabeth ; Morice, Alyn ; Patel, Manish ; Roy, Kay ; Sathyamurthy, Ramamurthy ; Anholm, James ; Campbell, Colin ; Holguin, Fernando ; Hudes, Golda ; Kaufman, David ; Klapholz, Ari ; Krishna, Harshavardhan ; Lin, Robert ; Moy, James N. ; Sousa, Daniel

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2024-04, Vol.12 (4), p.970-982 [Periódico revisado por pares]

United States: Elsevier Inc

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7
In search of a function for human type III interferons: insights from inherited and acquired deficits
In search of a function for human type III interferons: insights from inherited and acquired deficits
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In search of a function for human type III interferons: insights from inherited and acquired deficits

Zhang, Qian ; Kisand, Kai ; Feng, Yi ; Rinchai, Darawan ; Jouanguy, Emmanuelle ; Cobat, Aurélie ; Casanova, Jean-Laurent ; Zhang, Shen-Ying

Current opinion in immunology, 2024-04, Vol.87, Article 102427 [Periódico revisado por pares]

Elsevier Ltd

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8
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond
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Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond

Sharma, Mehul ; Suratannon, Narissara ; Leung, Daniel ; Baris, Safa ; Takeuchi, Ichiro ; Samra, Simran ; Yanagi, Kumiko ; Rosa Duque, Jaime S. ; Benamar, Mehdi ; Del Bel, Kate L. ; Momenilandi, Mana ; Béziat, Vivien ; Casanova, Jean-Laurent ; van Hagen, P. Martin ; Arai, Katsuhiro ; Nomura, Ichiro ; Kaname, Tadashi ; Chatchatee, Pantipa ; Morita, Hideaki ; Chatila, Talal A ; Lau, Yu Lung ; Turvey, Stuart E

Trends in immunology, 2024-02, Vol.45 (2), p.138-153 [Periódico revisado por pares]

England: Elsevier Ltd

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9
PD-1 signaling in neonates restrains CD8 + T cell function and protects against respiratory viral immunopathology
PD-1 signaling in neonates restrains CD8 + T cell function and protects against respiratory viral immunopathology
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PD-1 signaling in neonates restrains CD8 + T cell function and protects against respiratory viral immunopathology

Eddens, Taylor ; Parks, Olivia B ; Zhang, Yu ; Manni, Michelle L ; Casanova, Jean-Laurent ; Ogishi, Masato ; Williams, John V

Mucosal immunology, 2024 [Periódico revisado por pares]

United States

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10
HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY
HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY
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HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY

Bohlen, Jonathan ; Michelet, Marine ; Barzaghi, Federica ; Saettini, Francesco ; Vendemini, Francesca ; Catala, Albert ; Alsina, Laia ; Conti, Francesca ; Consonni, Fillippo ; Learndini, Davide ; Masetti, Riccardo ; Muratore, Edoardo ; Baccelli, Francesco ; Bagaric, Ivan ; Vatovec, Taja ; Seyed, Feroj ; Andre, Isabelle ; Buetow, Lori ; Delabesse, Eric ; Largeaud, Laetitia ; Ma, Cindy ; Abel, Laurent ; Sobrino, Steicy ; Ogishi, Masato ; Bessot, Boris ; Rouillon, Cecile ; Bole, Christine ; Seeleuthner, Yoann ; Voyer, Tom Le ; Rinchai, Darawan ; Rosain, Jeremie ; Zhang, Peng ; Chaldebas, Matthieu ; Neehus, Anna-Lena ; Erazo, Lucia ; Janda, Zarah ; Soudee, Camille ; Lagrese, Chantal ; Six, Emmanuelle ; Huang, Danny ; Tangye, Stuart ; Beziat, Vivien ; Gambineri, Eleonora ; Veltroni, Marinella ; Erlacher, Miriam ; Aiuti, Alessandro ; Pasquet, Marlene ; Casanova, Jean-Laurent ; Bustamante, Jacinta

EJC paediatric oncology, 2023-12, Vol.2, p.100040, Article 100040 [Periódico revisado por pares]

Elsevier

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