Works by Casanova, Jean‐Laurent

Results: 341

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

Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis.

Published in:

Medical Mycology, 2021, v. 59, n. 2, p. 180, doi. 10.1093/mmy/myaa043

By:

Ostadi, Vajiheh;
Sherkat, Roya;
Migaud, Melanie;
Modaressadeghi, Seyed-Mehran;
Casanova, Jean-Laurent;
Puel, Anne;
Nekooie-Marnany, Nioosha;
Ganjalikhani-Hakemi, Mazdak

Publication type:

Article

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1237

By:

AlKhater, Suzan A.;
Deswarte, Caroline;
Casanova, Jean‐Laurent;
Bustamante, Jacinta

Publication type:

Article

Mutation in IL36RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1114, doi. 10.1111/exd.13387

By:

Bal, Elodie;
Lim, Ai Ching;
Shen, Min;
Douangpanya, Jason;
Madrange, Marine;
Gazah, Rihab;
Tauber, Marie;
Beghdadi, Walid;
Casanova, Jean Laurent;
Bourrat, Emmanuelle;
Bachelez, Hervé;
Towne, Jennifer E.;
Smahi, Asma

Publication type:

Article

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

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01340

By:

Requena, David;
Maffucci, Patrick;
Bigio, Benedetta;
Shang, Lei;
Abhyankar, Avinash;
Boisson, Bertrand;
Stenson, Peter D.;
Cooper, David N.;
Cunningham-Rundles, Charlotte;
Casanova, Jean-Laurent;
Abel, Laurent;
Itan, Yuval

Publication type:

Article

IFN-γ regulates Fas ligand expression in human CD4.

Published in:

European Journal of Immunology, 2007, v. 37, n. 8, p. 2196, doi. 10.1002/eji.200636541

By:

Boselli, Daniela;
Losana, Giuliana;
Bernabei, Paola;
Bosisio, Daniela;
Drysdale, Pamela;
Kiessling, Rolf;
Gaston, John. S. H.;
Lammas, David;
Casanova, Jean-Laurent;
Kumararatne, Dinakantha S.;
Novelli, Francesco

Publication type:

Article

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

Published in:

European Journal of Immunology, 2006, v. 36, n. 1, p. 224, doi. 10.1002/eji.200535401

By:

Buck, Dietke;
Moshous, Despina;
de Chasseval, Régina;
Ma, Yunmei;
le Deist, Françoise;
Cavazzana-Calvo, Marina;
Fischer, Alain;
Casanova, Jean-Laurent;
Lieber, Michael R.;
de Villartay, Jean-Pierre

Publication type:

Article

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes.

Published in:

European Journal of Immunology, 2004, v. 34, n. 11, p. 3276, doi. 10.1002/eji.200425221

By:

Feinberg, Jacqueline;
Fieschi, Claire;
Doffinger, Rainer;
Feinberg, Max;
Leclerc, Tony;
Boisson-Dupuis, Stéphanie;
Picard, Capucine;
Bustamante, Jacinta;
Chapgier, Ariane;
Filipe-Santos, Orchidée;
Ku, Cheng-Lung;
de Beaucoudrey, Ludovic;
Reichenbach, Janine;
Antoni, Guillemette;
Baldé, Ramatoulaye;
Alcaïs, Alexandre;
Casanova, Jean-Laurent

Publication type:

Article

Mini-review The role of interleukin-12 in human infectious diseases: only a faint signature.

Published in:

European Journal of Immunology, 2003, v. 33, n. 6, p. 1461, doi. 10.1002/eji.200324038

By:

Fieschi, Claire;
Casanova, Jean-Laurent

Publication type:

Article

Requirement for both IL-12 and IFN-γ signaling pathways in optimal IFN-γ production by human T cells.

Published in:

European Journal of Immunology, 2002, v. 32, n. 3, p. 693, doi. 10.1002/1521-4141(200203)32:3<693::AID-IMMU693>3.0.CO;2-Q

By:

Losana, Giuliana;
Rigamonti, Laura;
Borghi, Igor;
Assenzio, Barbara;
Ariotti, Silvia;
Jouanguy, Emmanuelle;
Altare, Frederic;
Forni, Guido;
Casanova, Jean-Laurent;
Novelli, Francesco

Publication type:

Article

Real-time measurement of antigenic peptide binding to empty and preloaded single-chain major histocompatibility complex class I molecules.

Published in:

European Journal of Immunology, 1993, v. 23, n. 5, p. 1118, doi. 10.1002/eji.1830230521

By:

Ojcius, David M.;
Godeau, François;
Abastado, Jean-Pierre;
Casanova, Jean-Laurent;
Kourilsky, Philippe

Publication type:

Article

Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40216-x

By:

Zhang, Yujiao;
Vandestienne, Marie;
Lavillegrand, Jean-Rémi;
Joffre, Jeremie;
Santos-Zas, Icia;
Lavelle, Aonghus;
Zhong, Xiaodan;
Le Goff, Wilfried;
Guérin, Maryse;
Al-Rifai, Rida;
Laurans, Ludivine;
Bruneval, Patrick;
Guérin, Coralie;
Diedisheim, Marc;
Migaud, Melanie;
Puel, Anne;
Lanternier, Fanny;
Casanova, Jean-Laurent;
Cochain, Clément;
Zernecke, Alma

Publication type:

Article

Early ‘‘Relapse’’ After Herpetic Encephalitis: Extensive White Matter Lesions in an Infant With Interferon Production Deficit.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 3, p. 369, doi. 10.1177/0883073810382140

By:

Maia, Raquel;
Gouveia, Catarina;
Moreira, Ana;
Casanova, Jean Laurent;
Sancho-Shimizu, Vanessa;
Brito, Maria João

Publication type:

Article

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity.

Published in:

2017

By:

Schimke, Lena F.;
Hibbard, James;
Martinez-Barricarte, Ruben;
Khan, Taj Ali;
de Souza Cavalcante, Ricardo;
de Oliveira Junior, Edgar Borges;
França, Tabata Takahashi;
Iqbal, Asif;
Yamamoto, Guilherme;
Arslanian, Christina;
Feriotti, Claudia;
Costa, Tania Alves;
Bustamante, Jacinta;
Boisson-Dupuis, Stéphanie;
Casanova, Jean-Laurent;
Barbuto, José Alexandre Marzagao;
Zatz, Mayana;
Mendes, Rinaldo Poncio;
Calich, Vera Lucia Garcia;
Ochs, Hans D.

Publication type:

journal article

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.

Published in:

2016

By:

Jabot-Hanin, Fabienne;
Cobat, Aurélie;
Feinberg, Jacqueline;
Grange, Ghislain;
Remus, Natascha;
Poirier, Christine;
Boland-Auge, Anne;
Besse, Céline;
Bustamante, Jacinta;
Boisson-Dupuis, Stéphanie;
Casanova, Jean-Laurent;
Schurr, Erwin;
Alcaïs, Alexandre;
Hoal, Eileen G.;
Delacourt, Christophe;
Abel, Laurent

Publication type:

journal article

Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma.

Published in:

Journal of Infectious Diseases, 2015, v. 211, n. 11, p. 1842, doi. 10.1093/infdis/jiu667

By:

Aavikko, Mervi;
Kaasinen, Eevi;
Nieminen, Janne K.;
Byun, Minji;
Donner, Iikki;
Mancuso, Roberta;
Ferrante, Pasquale;
Clerici, Mario;
Brambilla, Lucia;
Tourlaki, Athanasia;
Sarid, Ronit;
Guttman-Yassky, Emma;
Taipale, Minna;
Morgunova, Ekaterina;
Pekkonen, Pirita;
Ojala, Päivi M.;
Pukkala, Eero;
Casanova, Jean-Laurent;
Vaarala, Outi;
Vahteristo, Pia

Publication type:

Article

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.

Published in:

2015

By:

Cobat, Aurélie;
Poirier, Christine;
Hoal, Eileen;
Boland-Auge, Anne;
de La Rocque, France;
Corrard, François;
Grange, Ghislain;
Migaud, Mélanie;
Bustamante, Jacinta;
Boisson-Dupuis, Stéphanie;
Casanova, Jean-Laurent;
Schurr, Erwin;
Alcaïs, Alexandre;
Delacourt, Christophe;
Abel, Laurent

Publication type:

journal article

Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in Morocco.

Published in:

Journal of Infectious Diseases, 2014, v. 210, n. 4, p. 611, doi. 10.1093/infdis/jiu140

By:

Sabri, Ayoub;
Grant, Audrey V.;
Cosker, Kristel;
El Azbaoui, Safa;
Abid, Ahmed;
Abderrahmani Rhorfi, Ismail;
Souhi, Hicham;
Janah, Hicham;
Alaoui-Tahiri, Kebir;
Gharbaoui, Yasser;
Benkirane, Majid;
Orlova, Marianna;
Boland, Anne;
Deswarte, Caroline;
Migaud, Melanie;
Bustamante, Jacinta;
Schurr, Erwin;
Boisson-Dupuis, Stephanie;
Casanova, Jean-Laurent;
Abel, Laurent

Publication type:

Article

Defining Risk Groups to Yellow Fever Vaccine-Associated Viscerotropic Disease in the Absence of Denominator Data.

Published in:

American Journal of Tropical Medicine & Hygiene, 2014, v. 90, n. 2, p. 267, doi. 10.4269/ajtmh.13-0542

By:

Seligman, Stephen J.;
Cohen, Joel E.;
Itan, Yuval;
Casanova, Jean-Laurent;
Pezzullo, John C.

Publication type:

Article

Human genetics of infectious diseases: a unified theory.

Published in:

EMBO Journal, 2007, v. 26, n. 4, p. 915, doi. 10.1038/sj.emboj.7601558

By:

Casanova, Jean-Laurent;
Abel, Laurent

Publication type:

Article

IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts.

Published in:

2008

By:

Rottman M;
Soudais C;
Vogt G;
Renia L;
Emile JF;
Decaluwe H;
Gaillard JL;
Casanova JL;
Rottman, Martin;
Soudais, Claire;
Vogt, Guillaume;
Renia, Laurent;
Emile, Jean-François;
Decaluwe, Hélène;
Gaillard, Jean-Louis;
Casanova, Jean-Laurent

Publication type:

journal article

IFN- Mediates the Rejection of Haematopoietic Stem Cells in IFN-R1-Deficient Hosts.

Published in:

PLoS Medicine, 2008, v. 5, n. 1, p. e26, doi. 10.1371/journal.pmed.0050026

By:

Rottman, Martin;
Soudais, Claire;
Vogt, Guillaume;
Renia, Laurent;
Emile, Jean-François;
Decaluwe, Hélène;
Gaillard, Jean-Louis;
Casanova, Jean-Laurent

Publication type:

Article

Severe acute herpes virus type 2 primo-infection and its association with anti-type 1 interferon autoantibodies.

Published in:

2023

By:

Martinot, Martin;
Gravier, Simon;
Mohseni-Zadeh, Mahsa;
Fabien, Nicole;
Casanova, Jean-Laurent;
Puel, Anne;
Goncalves, David

Publication type:

Case Study

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

Published in:

Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01024

By:

About, Frédégonde;
Bibert, Stéphanie;
Jouanguy, Emmanuelle;
Nalpas, Bertrand;
Lorenzo, Lazaro;
Rattina, Vimel;
Zarhrate, Mohammed;
Hanein, Sylvain;
Munteanu, Mona;
Müllhaupt, Beat;
Semela, David;
Semmo, Nasser;
Casanova, Jean-Laurent;
Theodorou, Ioannis;
Sultanik, Philippe;
Poynard, Thierry;
Pol, Stanislas;
Bochud, Pierre-Yves;
Cobat, Aurélie;
Abel, Laurent

Publication type:

Article

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children.

Published in:

Mediterranean Journal of Hematology & Infectious Diseases, 2012, v. 4, n. 1, p. 1, doi. 10.4084/MJHID.2012.033

By:

Galal, Nermeen;
Boutros, Jeannette;
Marsafy, Aisha;
Xiao-Fei Kong;
Feinberg, Jacqueline;
Casanova, Jean-Laurent;
Boisson-Dupuis, Stéphanie;
Bustamante, Jacinta

Publication type:

Article

Association between SARS-CoV-2 infection and Kawasaki-like multisystem inflammatory syndrome: a retrospective matched case-control study, Paris, France, April to May 2020.

Published in:

Eurosurveillance (15607917), 2020, v. 25, n. 48, p. 2, doi. 10.2807/1560-7917.ES.2020.25.48.2001813

By:

Toubiana, Julie;
Levy, Corinne;
Allali, Slimane;
Jung, Camille;
Leruez-Ville, Marianne;
Varon, Emmanuelle;
Bajolle, Fanny;
Ouldali, Naim;
Chareyre, Judith;
Béchet, Stephane;
Elbez, Annie;
Casanova, Jean-Laurent;
Chalumeau, Martin;
Cohen, Robert;
Cohen, Jérémie F.

Publication type:

Article

Autoantibodies against type I interferons are associated with multi-organ failure in COVID-19 patients.

Published in:

2021

By:

Koning, Rutger;
Bastard, Paul;
Casanova, Jean-Laurent;
Brouwer, Matthijs C.;
van de Beek, Diederik;
with the Amsterdam U.M.C. COVID-19 Biobank Investigators;
van Agtmael, Michiel;
Algera, Anne Geke;
Appelman, Brent;
van Baarle, Frank;
Bax, Diane;
Beudel, Martijn;
Bogaard, Harm Jan;
Bomers, Marije;
Bonta, Peter;
Bos, Lieuwe;
Botta, Michela;
de Brabander, Justin;
Bree, Godelieve;
de Bruin, Sanne

Publication type:

Letter

CORRELATION OF GRANULOMA STRUCTURE WITH CLINICAL OUTCOME DEFINES TWO TYPES OF IDIOPATHIC DISSEMINATED BCG INFECTION.

Published in:

Journal of Pathology, 1997, v. 181, n. 1, p. 25, doi. 10.1002/(SICI)1096-9896(199701)181:1<25::AID-PATH747>3.0.CO;2-Z

By:

EMILE, JEAN-FRANçOIS;
PATEY, NATACHA;
ALTARE, FRéDéRIC;
LAMHAMEDI, SALMA;
JOUANGUY, EMMANUELLE;
BOMAN, FRANçOIS;
QUILLARD, JANINE;
LECOMTE-HOUCKE, MARTINE;
VEROLA, OLIVIER;
MOUSNIER, JEAN-FRANçOISE;
DIJOUD, FRéDéRIQUE;
BLANCHE, STéPHANE;
FISCHER, ALAIN;
BROUSSE, NICOLE;
CASANOVA, JEAN-LAURENT

Publication type:

Article

Proteomics in immunity and herpes simplex encephalitis.

Published in:

Expert Review of Proteomics, 2014, v. 11, n. 1, p. 21, doi. 10.1586/14789450.2014.864954

By:

Pérez de Diego, Rebeca;
Mulvey, Claire;
Casanova, Jean-Laurent;
Godovac-Zimmermann, Jasminka

Publication type:

Article

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-256

By:

Itan, Yuval;
Mazel, Mark;
Mazel, Benjamin;
Abhyankar, Avinash;
Nitschke, Patrick;
Quintana-Murci, Lluis;
Boisson-Dupuis, Stephanie;
Boisson, Bertrand;
Abel, Laurent;
Shen-Ying Zhang;
Casanova, Jean-Laurent

Publication type:

Article

Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series.

Published in:

Annals of Clinical Microbiology & Antimicrobials, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12941-022-00500-y

By:

Mahdaviani, Seyed Alireza;
Fallahi, Mazdak;
Jamee, Mahnaz;
Marjani, Majid;
Tabarsi, Payam;
Moniri, Afshin;
Farnia, Parisa;
Daneshmandi, Zahra;
Parvaneh, Nima;
Casanova, Jean-Laurent;
Bustamante, Jacinta;
Mansouri, Davood;
Velayati, Ali Akbar

Publication type:

Article

A case of Darier's disease with a missense mutation in exon 8 of ATP2A2.

Published in:

Journal of Dermatology (John Wiley & Sons, Inc.), 2025, v. 52, n. 3, p. e220, doi. 10.1111/1346-8138.17477

By:

Hasegawa, Akiko;
Matsuda, Kazuki M.;
Ogishi, Masato;
Miura, Shunsuke;
Yoshizaki, Ayumi;
Chaldebas, Matthieu;
Milisavljevic, Baptiste;
Zhang, Peng;
Casanova, Jean‐Laurent;
Sato, Shinichi

Publication type:

Article

Disseminated Mycobacterium avium Infection in a 20-Year-Old Female with Partial Recessive IFNγR1 Deficiency.

Published in:

Respiration, 2006, v. 73, n. 3, p. 375, doi. 10.1159/000088682

By:

Remiszewski, Paweł;
Roszkowska-Śliż, Barbara;
Winek, Jolanta;
Chapgier, Ariane;
Feinberg, Jacquelin;
Langfort, Renata;
Bestry, Iwona;
Augustynowicz-Kopeć, Ewa;
Ptak, Jakub;
Casanova, Jean-Laurent;
Rowińska-Zakrzewska, Ewa

Publication type:

Article

Isolated congenital asplenia: An overlooked cause of thrombocytosis.

Published in:

American Journal of Hematology, 2022, v. 97, n. 8, p. 1110, doi. 10.1002/ajh.26522

By:

Borsani, Oscar;
Asano, Takaki;
Boisson, Bertrand;
Fraticelli, Sara;
Braschi‐Amirfarzan, Marta;
Pietra, Daniela;
Casetti, Ilaria Carola;
Vanni, Daniele;
Trotti, Chiara;
Borghesi, Alessandro;
Casanova, Jean‐Laurent;
Arcaini, Luca;
Rumi, Elisa

Publication type:

Article

New frontiers in immunology.

Published in:

EMBO Reports, 2005, v. 6, n. 7, p. 620, doi. 10.1038/sj.embor.7400457

By:

Beutler, Bruce;
Casanova, Jean-Laurent

Publication type:

Article

Association between IFNA genotype and the risk of sarcoidosis.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 503, doi. 10.1007/s00439-004-1099-5

By:

Akahoshi, Mitsuteru;
Ishihara, Mami;
Remus, Natascha;
Uno, Kazuko;
Miyake, Katsuhisa;
Hirota, Tomomitsu;
Nakashima, Kazuko;
Matsuda, Akira;
Kanda, Mizuo;
Enomoto, Tadao;
Ohno, Shigeaki;
Nakashima, Hitoshi;
Casanova, Jean-Laurent;
Hopkin, Julian M.;
Tamari, Mayumi;
Mao, Xiao-Quan;
Shirakawa, Taro

Publication type:

Article

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.

Published in:

Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01161

By:

Dotta, Laura;
Vairo, Donatella;
Giacomelli, Mauro;
Moratto, Daniele;
Tamassia, Nicola;
Vermi, William;
Lonardi, Silvia;
Casanova, Jean-Laurent;
Bustamante, Jacinta;
Giliani, Silvia;
Badolato, Raffaele

Publication type:

Article

purely quantitative form of partial recessive IFN- γ R2 deficiency caused by mutations of the initiation or second codon.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 524, doi. 10.1093/hmg/ddy357

By:

Oleaga-Quintas, Carmen;
Deswarte, Caroline;
Moncada-Vélez, Marcela;
Metin, Ayse;
Rao, Indumathi Krishna;
Kanık-Yüksek, Saliha;
Nieto-Patlán, Alejandro;
Guérin, Antoine;
Gülhan, Belgin;
Murthy, Savita;
Özkaya-Parlakay, Aslınur;
Abel, Laurent;
Martínez-Barricarte, Rubén;
Diego, Rebeca Pérez de;
Boisson-Dupuis, Stéphanie;
Kong, Xiao-Fei;
Casanova, Jean-Laurent;
Bustamante, Jacinta

Publication type:

Article

Identification of a Major Locus, TNF1, That Controls BCG-Triggered Tumor Necrosis Factor Production by Leukocytes in an Area Hyperendemic for Tuberculosis.

Published in:

Clinical Infectious Diseases, 2013, v. 57, n. 7, p. 963, doi. 10.1093/cid/cit438

By:

Cobat, Aurelie;
Hoal, Eileen G.;
Gallant, Caroline J.;
Simkin, Leah;
Black, Gillian F.;
Stanley, Kim;
Jaïs, Jean-Philippe;
Yu, Ting-Heng;
Boland-Auge, Anne;
Grange, Ghislain;
Delacourt, Christophe;
van Helden, Paul;
Casanova, Jean-Laurent;
Abel, Laurent;
Alcaïs, Alexandre;
Schurr, Erwin

Publication type:

Article

Very Late-Onset Group B Streptococcus Meningitis, Sepsis, and Systemic Shigellosis due to Interleukin-1 Receptor—Associated Kinase-4 Deficiency.

Published in:

2009

By:

Krause, Jens C.;
Ghandil, Pegah;
Chrabieh, Maya;
Casanova, Jean-Laurent;
Picard, Capucine;
Puel, Anne;
Creech, C. Buddy

Publication type:

Case Study

Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti–Type I Interferon Antibodies.

Published in:

Journal of Infectious Diseases, 2025, v. 231, n. 1, p. e206, doi. 10.1093/infdis/jiae321

By:

Barzaghi, Federica;
Visconti, Camilla;
Pipitone, Giovanni Battista;
Bondesan, Simone;
Molli, Giulia;
Giannelli, Stefania;
Sartirana, Claudia;
Lampasona, Vito;
Bazzigaluppi, Elena;
Brigatti, Cristina;
Gervais, Adrian;
Bastard, Paul;
Din, Chiara Tassan;
Molinari, Chiara;
Piemonti, Lorenzo;
Casanova, Jean-Laurent;
Carrera, Paola;
Casari, Giorgio;
Aiuti, Alessandro

Publication type:

Article

Unraveling the Immune Signature of Herpes Zoster: Insights Into the Pathophysiology and Human Leukocyte Antigen Risk Profile.

Published in:

Journal of Infectious Diseases, 2024, v. 230, n. 3, p. 706, doi. 10.1093/infdis/jiad609

By:

Vandoren, Romi;
Boeren, Marlies;
Schippers, Jolien;
Bartholomeus, Esther;
Mullan, Kerry;
Michels, Nele;
Aerts, Olivier;
Leysen, Julie;
Bervoets, An;
Lambert, Julien;
Leuridan, Elke;
Wens, Johan;
Peeters, Karin;
Emonds, Marie-Paule;
Jansens, Hilde;
Casanova, Jean-Laurent;
Bastard, Paul;
Suls, Arvid;
Tendeloo, Viggo Van;
Ponsaerts, Peter

Publication type:

Article

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

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

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Published in:

Nature Genetics, 2001, v. 27, n. 1, p. 18, doi. 10.1038/83707

By:

Wildin, Robert S.;
Ramsdell, Fred;
Peake, Jane;
Faravelli, Francesca;
Casanova, Jean-Laurent;
Buist, Neil;
Levy-Lahad, Ephrat;
Mazzella, Massimo;
Goulet, Olivier;
Perroni, Lucia;
Dagna Bricarelli, Franca;
Byrne, Geoffrey;
McEuen, Mark;
Proll, Sean;
Appleby, Mark;
Brunkow, Mary E.

Publication type:

Article

Human genetic and immunological determinants of SARS‐CoV‐2 and Epstein–Barr virus diseases in childhood: Insightful contrasts.

Published in:

Journal of Internal Medicine, 2023, v. 294, n. 2, p. 127, doi. 10.1111/joim.13628

By:

Pan‐Hammarström, Qiang;
Casanova, Jean‐Laurent

Publication type:

Article

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?

Published in:

2020

By:

Casanova, Jean-Laurent;
Abel, Laurent

Publication type:

Editorial

Human type I interferons protect Vero E6 and ARPE-19 cells against West Nile virus and are neutralized by pathogenic autoantibodies.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-89312-6

By:

Ferrari, Alessandro;
Cassaniti, Irene;
Rovida, Francesca;
Lilleri, Daniele;
Croce, Stefania;
Trespidi, Francesca;
Ghirardello, Stefano;
Gervais, Adrian;
Zhang, Shen-Ying;
Casanova, Jean-Laurent;
Borghesi, Alessandro;
Baldanti, Fausto

Publication type:

Article

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression.

Published in:

Frontiers in Microbiology, 2017, p. 1, doi. 10.3389/fmicb.2017.00616

By:

de Souza, Thais Louvain;
de Souza Campos Fernandes, Regina C.;
da Silva, Juliana Azevedo;
Alves Júnior, Vladimir Gomes;
Coelho, Adelia Gomes;
Souza Faria, Afonso C.;
Salomão Simão, Nabia M. Moreira;
Souto Filho, João T.;
Deswarte, Caroline;
Boisson-Dupuis, Stéphanie;
Torgerson, Dara;
Casanova, Jean-Laurent;
Bustamante, Jacinta;
Medina-Acosta, Enrique

Publication type:

Article