Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing

por Rinne, Sanni J, Sipilä, Lauri J, Sulo, Päivi, Jouanguy, Emmanuelle, Béziat, Vivien, Abel, Laurent, Casanova, Jean-Laurent, Parvaneh, Nima, Balighi, Kamran, Guttman-Yassky, Emma, Sarid, Ronit, Aaltonen, Lauri A, Aavikko, Mervi
Publicado 2019

A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency

por Lagresle-Peyrou, Chantal, Olichon, Aurélien, Sadek, Hanem, Roche, Philippe, Tardy, Claudine, Da Silva, Cindy, Garrigue, Alexandrine, Fischer, Alain, Moshous, Despina, Collette, Yves, Picard, Capucine, Casanova, Jean Laurent, André, Isabelle, Cavazzana, Marina
Publicado 2020

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency

por Korol, Cecilia B., Belkaya, Serkan, Alsohime, Fahad, Lorenzo, Lazaro, Boisson-Dupuis, Stéphanie, Brancale, Joseph, Neehus, Anna-Lena, Vilarinho, Silvia, Zobaida, Alsum, Halwani, Rabih, Al-Muhsen, Saleh, Casanova, Jean-Laurent, Jouanguy, Emmanuelle
Publicado 2022

Understanding and Integrating Local Perceptions of Trees and Forests into Incentives for Sustainable Landscape Management

por Pfund, Jean-Laurent, Watts, John Daniel, Boissière, Manuel, Boucard, Amandine, Bullock, Renee Marie, Ekadinata, Andree, Dewi, Sonya, Feintrenie, Laurène, Levang, Patrice, Rantala, Salla, Sheil, Douglas, Sunderland, Terence Clarence Heethom, Urech, Zora Lea
Publicado 2011

Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational study

por Toubiana, Julie, Poirault, Clément, Corsia, Alice, Bajolle, Fanny, Fourgeaud, Jacques, Angoulvant, François, Debray, Agathe, Basmaci, Romain, Salvador, Elodie, Biscardi, Sandra, Frange, Pierre, Chalumeau, Martin, Casanova, Jean-Laurent, Cohen, Jérémie F, Allali, Slimane
Publicado 2020

Post hoc study to investigate the potential causes of poor quality of cardiovascular medicines collected in sub-Saharan countries

por Secretan, Philippe-Henri, Antignac, Marie, Yagoubi, Najet, Bernard, Mélisande, Perier, Marie Cécile, Takombe, Jean Laurent, Balde, Dadhi, N'Guetta, Roland, Ikama, Méo Stéphane, Zabsonre, Patrice, Sidi Aly, Abdallahi, Jouven, Xavier, Do, Bernard
Publicado 2020

A common TMPRSS2 variant has a protective effect against severe COVID-19

por David, Alessia, Parkinson, Nicholas, Peacock, Thomas P, Pairo-Castineira, Erola, Khanna, Tarun, Cobat, Aurelie, Tenesa, Albert, Sancho-Shimizu, Vanessa, Casanova, Jean-Laurent, Abel, Laurent, Barclay, Wendy S., Baillie, J.Kenneth, Sternberg, Michael JE
Publicado 2022

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation

por Gottschalk, Ilona, Kölsch, Uwe, Wagner, Dimitrios L., Kath, Jonas, Martini, Stefania, Krüger, Renate, Puel, Anne, Casanova, Jean-Laurent, Jezela-Stanek, Aleksandra, Rossi, Rainer, Chehadeh, Salima El, Van Esch, Hilde, von Bernuth, Horst
Publicado 2022

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

por Bolze, Alexandre, Abhyankar, Avinash, Grant, Audrey V., Patel, Bhavi, Yadav, Ruchi, Byun, Minji, Caillez, Daniel, Emile, Jean-Francois, Pastor-Anglada, Marçal, Abel, Laurent, Puel, Anne, Govindarajan, Rajgopal, de Pontual, Loic, Casanova, Jean-Laurent
Publicado 2012

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

por Crequer, Amandine, Picard, Capucine, Patin, Etienne, D’Amico, Aurelia, Abhyankar, Avinash, Munzer, Martine, Debré, Marianne, Zhang, Shen-Ying, de Saint-Basile, Geneviève, Fischer, Alain, Abel, Laurent, Orth, Gérard, Casanova, Jean-Laurent, Jouanguy, Emmanuelle
Publicado 2012

Macrophages induce differentiation of plasma cells through CXCL10/IP-10

por Xu, Wei, Joo, HyeMee, Clayton, Sandra, Dullaers, Melissa, Herve, Marie-Cecile, Blankenship, Derek, De La Morena, Maria Teresa, Balderas, Robert, Picard, Capucine, Casanova, Jean-Laurent, Pascual, Virginia, Oh, SangKon, Banchereau, Jacques
Publicado 2012

Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome

por Kracker, Sven, Curtis, James, Ibrahim, Mohammad A A, Sediva, Anna, Salisbury, Jon, Campr, Vit, Debré, Marianne, Edgar, J. David M., Imai, Kohsuke, Picard, Capucine, Casanova, Jean-Laurent, Fischer, Alain, Nejentsev, Sergey, Durandy, Anne
Publicado 2014

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

por 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
Publicado 2020

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

por Kerner, Gaspard, Neehus, Anna-Lena, Philippot, Quentin, Bohlen, Jonathan, Rinchai, Darawan, Kerrouche, Nacim, Puel, Anne, Zhang, Shen-Ying, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent, Patin, Etienne, Laval, Guillaume, Quintana-Murci, Lluis
Publicado 2023

Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients

por El Kettani, Assiya, Ailal, Fatima, Marnissi, Farida, Hali, Fouzia, El Bakkouri, Jalila, Benhsaien, Ibtihal, Le Voyer, Tom, Guèye, Mame Sokhna, Chevalier, Rémi, Chiheb, Soumiya, Zerouali, Khalid, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Bousfiha, Ahmed Aziz
Publicado 2023

Autoantibodies Against Type I IFNs in Patients with Ph-Negative Myeloproliferative Neoplasms

por Borsani, Oscar, Bastard, Paul, Rosain, Jérémie, Gervais, Adrian, Sant'Antonio, Emanuela, Vanni, Daniele, Casetti, Ilaria Carola, Pietra, Daniela, Trotti, Chiara, Ferretti, Virginia Valeria, Malcovati, Luca, Arcaini, Luca, Borghesi, Alessandro, Casanova, Jean-Laurent, Rumi, Elisa
Publicado 2021

Human CD14(dim) Monocytes Patrol and Sense Nucleic Acids and Viruses via TLR7 and TLR8 Receptors

por Cros, Jérôme, Cagnard, Nicolas, Woollard, Kevin, Patey, Natacha, Zhang, Shen-Ying, Senechal, Brigitte, Puel, Anne, Biswas, Subhra K., Moshous, Despina, Picard, Capucine, Jais, Jean-Philippe, D'Cruz, David, Casanova, Jean-Laurent, Trouillet, Céline, Geissmann, Fréderic
Publicado 2010

Tuberculin Skin Test Negativity Is Under Tight Genetic Control of Chromosomal Region 11p14-15 in Settings With Different Tuberculosis Endemicities

por 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
Publicado 2015

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

por Scott, Eric M., Halees, Anason, Itan, Yuval, Spencer, Emily G., He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B., Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G., Alkuraya, Fowzan S., Casanova, Jean-Laurent, Gleeson, Joseph G.
Publicado 2016

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1

por Pedraza-Sánchez, Sigifredo, Lezana-Fernández, Jose Luis, Gonzalez, Yolanda, Martínez-Robles, Luis, Ventura-Ayala, María Laura, Sadowinski-Pine, Stanislaw, Nava-Frías, Margarita, Moreno-Espinosa, Sarbelio, Casanova, Jean-Laurent, Puel, Anne, Boisson-Dupuis, Stephanie, Torres, Martha
Publicado 2017