Works matching AU Casanova, Jean‐Laurent


Results: 341
    1

    Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.

    Published in:
    2017
    By:
    • Parvaneh, Nima;
    • Barlogis, Vincent;
    • Alborzi, Abdolvahab;
    • Deswarte, Caroline;
    • Boisson‐Dupuis, Stéphanie;
    • Migaud, Mélanie;
    • Farnaria, Catherine;
    • Markle, Janet;
    • Parvaneh, Leila;
    • Casanova, Jean‐Laurent;
    • Bustamante, Jacinta;
    • Boisson-Dupuis, Stéphanie;
    • Migaud, Mélanie;
    • Casanova, Jean-Laurent
    Publication type:
    journal article
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    A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
    By:
    • Thomas, Sophie;
    • Wright, Kevin J.;
    • Corre, Stéphanie Le;
    • Micalizzi, Alessia;
    • Romani, Marta;
    • Abhyankar, Avinash;
    • Saada, Julien;
    • Perrault, Isabelle;
    • Amiel, Jeanne;
    • Litzler, Julie;
    • Filhol, Emilie;
    • Elkhartoufi, Nadia;
    • Kwong, Mandy;
    • Casanova, Jean‐Laurent;
    • Boddaert, Nathalie;
    • Baehr, Wolfgang;
    • Lyonnet, Stanislas;
    • Munnich, Arnold;
    • Burglen, Lydie;
    • Chassaing, Nicolas
    Publication type:
    Article
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    IL-12 Rβ1 Deficiency: Mutation Update and Description of the IL12 RB1 Variation Database.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1329, doi. 10.1002/humu.22380
    By:
    • Vosse, Esther;
    • Haverkamp, Margje H.;
    • Ramirez‐Alejo, Noe;
    • Martinez‐Gallo, Mónica;
    • Blancas‐Galicia, Lizbeth;
    • Metin, Ayşe;
    • Garty, Ben Zion;
    • Sun‐Tan, Çağman;
    • Broides, Arnon;
    • Paus, Roelof A.;
    • Keskin, Özlem;
    • Çağdaş, Deniz;
    • Tezcan, Ilhan;
    • Lopez‐Ruzafa, Encarna;
    • Aróstegui, Juan I.;
    • Levy, Jacov;
    • Espinosa‐Rosales, Francisco J.;
    • Sanal, Özden;
    • Santos‐Argumedo, Leopoldo;
    • Casanova, Jean‐Laurent
    Publication type:
    Article
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    Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease.

    Published in:
    Human Mutation, 2012, v. 33, n. 9, p. 1377, doi. 10.1002/humu.22113
    By:
    • Tsumura, Miyuki;
    • Okada, Satoshi;
    • Sakai, Hidemasa;
    • Yasunaga, Shin'ichiro;
    • Ohtsubo, Motoaki;
    • Murata, Takuji;
    • Obata, Hideto;
    • Yasumi, Takahiro;
    • Kong, Xiao-Fei;
    • Abhyankar, Avinash;
    • Heike, Toshio;
    • Nakahata, Tatsutoshi;
    • Nishikomori, Ryuta;
    • Al-Muhsen, Saleh;
    • Boisson-Dupuis, Stéphanie;
    • Casanova, Jean-Laurent;
    • AlZahrani, Mofareh;
    • Shehri, Mohammed Al;
    • ElGhazali, Geyhad;
    • Takihara, Yoshihiro
    Publication type:
    Article
    8

    Alu-repeat-induced deletions within the NCF2 gene causing p67- phox-deficient chronic granulomatous disease (CGD).

    Published in:
    Human Mutation, 2010, v. 31, n. 2, p. 151, doi. 10.1002/humu.21156
    By:
    • Gentsch, Marcus;
    • Kaczmarczyk, Aneta;
    • van Leeuwen, Karin;
    • de Boer, Martin;
    • Kaus-Drobek, Magdalena;
    • Dagher, Marie-Claire;
    • Kaiser, Petra;
    • Arkwright, Peter D.;
    • Gahr, Manfred;
    • Rösen-Wolff, Angela;
    • Bochtler, Matthias;
    • Secord, Elizabeth;
    • Britto-Williams, Pamela;
    • Saifi, Gulam Mustafa;
    • Maddalena, Anne;
    • Dbaibo, Ghassan;
    • Bustamante, Jacinta;
    • Casanova, Jean-Laurent;
    • Roos, Dirk;
    • Roesler, Joachim
    Publication type:
    Article
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    A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.

    Published in:
    Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02366
    By:
    • De Bruyne, Marieke;
    • Hoste, Levi;
    • Bogaert, Delfien J.;
    • Van den Bossche, Lien;
    • Tavernier, Simon J.;
    • Parthoens, Eef;
    • Migaud, Mélanie;
    • Konopnicki, Deborah;
    • Jean Cyr Yombi;
    • Lambrecht, Bart N.;
    • van Daele, Sabine;
    • de Medeiros, Ana Karina Alves;
    • Brochez, Lieve;
    • Beyaert, Rudi;
    • De Baere, Elfride;
    • Puel, Anne;
    • Casanova, Jean-Laurent;
    • Goffard, Jean-Christophe;
    • Savvides, Savvas N.;
    • Haerynck, Filomeen
    Publication type:
    Article
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    Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome.

    Published in:
    2006
    By:
    • Picard, Capucine;
    • Mellouli, Fethi;
    • Duprez, Renan;
    • Chédeville, Gaëlle;
    • Neven, Bénédicte;
    • Fraitag, Sylvie;
    • Delaunay, Jean;
    • Le Deist, Françoise;
    • Fischer, Alain;
    • Blanche, Stéphane;
    • Bodemer, Christine;
    • Gessain, Antoine;
    • Casanova, Jean-Laurent;
    • Bejaoui, Mohamed;
    • Chédeville, Gaëlle;
    • Neven, Bénédicte;
    • Le Deist, Françoise;
    • Blanche, Stéphane
    Publication type:
    journal article
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    Inherited disorders of the IL-12-IFN-γ axis in patients with disseminated BCG infection.

    Published in:
    European Journal of Pediatrics, 2005, v. 164, n. 12, p. 753, doi. 10.1007/s00431-005-1689-9
    By:
    • Mansouri, Davood;
    • Adimi, Parisa;
    • Mirsaeidi, Mehdi;
    • Mansouri, Nahal;
    • Khalilzadeh, Soheila;
    • Masjedi, Mohammad R.;
    • Adimi, Parvaneh;
    • Tabarsi, Payam;
    • Naderi, Mohammad;
    • Filipe-Santos, Orchidée;
    • Vogt, Guillaume;
    • De Beaucoudrey, Ludovic;
    • Bustamante, Jacinta;
    • Chapgier, Ariane;
    • Feinberg, Jacqueline;
    • Velayati, Ali A.;
    • Casanova, Jean-Laurent
    Publication type:
    Article
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    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
    By:
    • Akizu, Naiara;
    • Ozgul, R Koksal;
    • Sagıroglu, Mahmut Samil;
    • Azam, Matloob;
    • Selim, Laila;
    • Mahmoud, Iman G;
    • Abdel-Hadi, Sawsan;
    • Badawy, Amera El;
    • Sadek, Abdelrahim A;
    • Mojahedi, Faezeh;
    • Kayserili, Hulya;
    • Masri, Amira;
    • Bastaki, Laila;
    • Müller, Ulrich;
    • Cantagrel, Vincent;
    • Desguerre, Isabelle;
    • Casanova, Jean-Laurent;
    • Dursun, Ali;
    • Gunel, Murat;
    • Gabriel, Stacey B
    Publication type:
    Article
    33

    De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
    By:
    • Barcia, Giulia;
    • Fleming, Matthew R;
    • Deligniere, Aline;
    • Gazula, Valeswara-Rao;
    • Brown, Maile R;
    • Langouet, Maeva;
    • Chen, Haijun;
    • Kronengold, Jack;
    • Abhyankar, Avinash;
    • Cilio, Roberta;
    • Nitschke, Patrick;
    • Kaminska, Anna;
    • Boddaert, Nathalie;
    • Casanova, Jean-Laurent;
    • Desguerre, Isabelle;
    • Munnich, Arnold;
    • Dulac, Olivier;
    • Kaczmarek, Leonard K;
    • Colleaux, Laurence;
    • Nabbout, Rima
    Publication type:
    Article
    34

    Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
    By:
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Abhyankar, Avinash;
    • Le Goff, Wilfried;
    • Serre, Valérie;
    • Afenjar, Alexandra;
    • Destrée, Anne;
    • di Rocco, Maja;
    • Héron, Delphine;
    • Jacquemont, Sébastien;
    • Marlin, Sandrine;
    • Simon, Marleen;
    • Tolmie, John;
    • Verloes, Alain;
    • Casanova, Jean-Laurent;
    • Munnich, Arnold;
    • Cormier-Daire, Valérie
    Publication type:
    Article
    35

    Impaired response to interferon-a/B and lethal viral disease in human STAT1 deficiency.

    Published in:
    Nature Genetics, 2003, v. 33, n. 3, p. 388, doi. 10.1038/ng1097
    By:
    • Dupuis, Stephanie;
    • Jouanguy, Emmanuelle;
    • Al-Hajjar, Sami;
    • Fieschi, Claire;
    • Al-Mohsen, Ibrahim Zaid;
    • Al-Jumaah, Suliman;
    • Yang, Kun;
    • Chapgier, Ariane;
    • Eidenschenk, Celine;
    • Eid, Pierre;
    • Ghonaium, Abdulaziz Al;
    • Tufenkeji, Haysam;
    • Frayha, Husn;
    • Al-Gazlan, Suleiman;
    • Al-Rayes, Hassan;
    • Schreiber, Robert D.;
    • Gresser, Ion;
    • Casanova, Jean-Laurent
    Publication type:
    Article
    36

    A virus finds its natural killer.

    Published in:
    Nature Genetics, 2001, v. 28, n. 1, p. 7, doi. 10.1038/88296
    By:
    • Casanova, Jean-Laurent;
    • Jouanguy, Emmanuelle;
    • Abel, Laurent
    Publication type:
    Article
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    Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

    Published in:
    Critical Reviews in Clinical Laboratory Sciences, 2018, v. 55, n. 3, p. 184, doi. 10.1080/10408363.2018.1444580
    By:
    • Esteve-Solé, Ana;
    • Sologuren, Ithaisa;
    • Martínez-Saavedra, María Teresa;
    • Deyà-Martínez, Àngela;
    • Oleaga-Quintas, Carmen;
    • Martinez-Barricarte, Rubén;
    • Martin-Nalda, Andrea;
    • Juan, Manel;
    • Casanova, Jean-Laurent;
    • Rodriguez-Gallego, Carlos;
    • Alsina, Laia;
    • Bustamante, Jacinta
    Publication type:
    Article
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    Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature.

    Published in:
    Journal of Fungi, 2022, v. 8, n. 5, p. 446, doi. 10.3390/jof8050446
    By:
    • Paccoud, Olivier;
    • Vignier, Nicolas;
    • Boui, Mohammed;
    • Migaud, Mélanie;
    • Vironneau, Pierre;
    • Kania, Romain;
    • Méchaï, Frédéric;
    • Brun, Sophie;
    • Alanio, Alexandre;
    • Tauziède-Espariat, Arnault;
    • Adle-Biassette, Homa;
    • Ouedraogo, Elise;
    • Bustamante, Jacinta;
    • Bouchaud, Olivier;
    • Casanova, Jean-Laurent;
    • Puel, Anne;
    • Lanternier, Fanny
    Publication type:
    Article
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    Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway.

    Published in:
    Cells (2073-4409), 2020, v. 9, n. 2, p. 483, doi. 10.3390/cells9020483
    By:
    • Haake, Kathrin;
    • Neehus, Anna-Lena;
    • Buchegger, Theresa;
    • Kühnel, Mark Philipp;
    • Blank, Patrick;
    • Philipp, Friederike;
    • Oleaga-Quintas, Carmen;
    • Schulz, Ansgar;
    • Grimley, Michael;
    • Goethe, Ralph;
    • Jonigk, Danny;
    • Kalinke, Ulrich;
    • Boisson-Dupuis, Stéphanie;
    • Casanova, Jean-Laurent;
    • Bustamante, Jacinta;
    • Lachmann, Nico
    Publication type:
    Article
    48

    More rapid blood interferon a2 decline in fatal versus surviving COVID-19 patients C.

    Published in:
    Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1250214
    By:
    • Joly, Candie;
    • Desjardins, Delphine;
    • Porcher, Raphael;
    • Péré, Hélène;
    • Bruneau, Thomas;
    • Zhang, Qian;
    • Bastard, Paul;
    • Cobat, Aurélie;
    • Resmini, Léa;
    • Lenoir, Olivia;
    • Savale, Laurent;
    • Lécuroux, Camille;
    • Verstuyft, Céline;
    • Roque-Afonso, Anne-Marie;
    • Veyer, David;
    • Baron, Gabriel;
    • Resche-Rigon, Matthieu;
    • Ravaud, Philippe;
    • Casanova, Jean-Laurent;
    • Grand, Roger Le
    Publication type:
    Article
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