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

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Published in:

Annals of the New York Academy of Sciences, 2011, v. 1246, n. 1, p. 92, doi. 10.1111/j.1749-6632.2011.06273.x

By:

Bustamante, Jacinta;
Picard, Capucine;
Boisson‐Dupuis, Stéphanie;
Abel, Laurent;
Casanova, Jean‐Laurent

Publication type:

Article

Definition of primary immunodeficiency in 2011: a 'trialogue' among friends.

Published in:

Annals of the New York Academy of Sciences, 2011, v. 1238, n. 1, p. 1, doi. 10.1111/j.1749-6632.2011.06212.x

By:

Conley, Mary Ellen;
Notarangelo, Luigi D.;
Casanova, Jean‐Laurent

Publication type:

Article

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 18, doi. 10.1111/j.1749-6632.2010.05834.x

By:

Alcaïs, Alexandre;
Quintana‐Murci, Lluis;
Thaler, David S.;
Schurr, Erwin;
Abel, Laurent;
Casanova, Jean‐Laurent

Publication type:

Article

Taking population stratification into account by local permutations in rare‐variant association studies on small samples.

Published in:

Genetic Epidemiology, 2021, v. 45, n. 8, p. 821, doi. 10.1002/gepi.22426

By:

Mullaert, Jimmy;
Bouaziz, Matthieu;
Seeleuthner, Yoann;
Bigio, Benedetta;
Casanova, Jean‐Laurent;
Alcaïs, Alexandre;
Abel, Laurent;
Cobat, Aurélie

Publication type:

Article

Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation.

Published in:

2020

By:

Acker, Karen P.;
Borlack, Rachel;
Iuga, Alina;
Remotti, Helen E.;
Soderquist, Craig R.;
Satoshi Okada;
Miyuki Tsumura;
Casanova, Jean-Laurent;
Picoraro, Joseph;
Puel, Anne;
Kinberg, Sivan;
Demirdag, Yesim;
Okada, Satoshi;
Tsumura, Miyuki

Publication type:

Case Study

Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases.

Published in:

Nature Immunology, 2007, v. 8, n. 11, p. 1165, doi. 10.1038/ni1535

By:

Quintana-Murci, Lluis;
Alcaïs, Alexandre;
Abel, Laurent;
Casanova, Jean-Laurent

Publication type:

Article

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

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

Editorial: Advances in primary immunodeficiencies (inborn errors of immunity) in Central-Eastern Europe, volume II.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1221137

By:

Pac, Malgorzata;
Casanova, Jean-Laurent;
Tuzankina, Irina;
Maródi, László

Publication type:

Article

Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.

Published in:

Viruses (1999-4915), 2024, v. 16, n. 9, p. 1415, doi. 10.3390/v16091415

By:

El Kettani, Assiya;
Ouair, Hind;
Marnissi, Farida;
El Bakkouri, Jalila;
Chevalier, Rémi;
Lorenzo, Lazaro;
Kholaiq, Halima;
Béziat, Vivien;
Jouanguy, Emmanuelle;
Casanova, Jean-Laurent;
Bousfiha, Ahmed Aziz

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

Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.

Published in:

Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00623-0

By:

Sharifinejad, Niusha;
Mahdaviani, Seyed Alireza;
Jamee, Mahnaz;
Daneshmandi, Zahra;
Moniri, Afshin;
Marjani, Majid;
Tabarsi, Payam;
Farnia, Parisa;
Rekabi, Mahsa;
Fallahi, Mazdak;
Hashemimoghaddam, Seyedeh Atefeh;
Mohkam, Masoumeh;
Bustamante, Jacinta;
Casanova, Jean-Laurent;
Mansouri, Davood;
Velayati, Ali Akbar

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

Rhinoscleroma: A French National Retrospective Study of Epidemiological and Clinical Features.

Published in:

Clinical Infectious Diseases, 2008, v. 47, n. 11, p. 1396, doi. 10.1086/592966

By:

de Pontual, Loïc;
Ovetchkine, Philippe;
Rodriguez, Diana;
Grant, Audrey;
Puel, Anne;
Bustamante, Jacinta;
Plancoulaine, Sabine;
Yona, Laurent;
Lienhart, Pierre-Yves;
Dehesdin, Daniele;
Huerre, Michel;
Tournebize, Régis;
Sansonetti, Philippe;
Abel, Laurent;
Casanova, Jean Laurent

Publication type:

Article

Septicemia without Sepsis: Inherited Disorders of Nudear Factor -- κB --Mediated Inflammation.

Published in:

Clinical Infectious Diseases, 2005, v. 41, p. S436, doi. 10.1086/431994

By:

Bernuth, Horst Von;
Puel, Anne;
Cheng-Lung Ku;
Kun Yang;
Bustamante, Jacinta;
Huey-Hsuan Chang;
Picard, Capucine;
Casanova, Jean-Laurent

Publication type:

Article

Primary Cytomegalovirus Infection, Atypical Kawasaki Disease, and Coronary Aneurysms in 2 Infants.

Published in:

Clinical Infectious Diseases, 2005, v. 41, n. 5, p. e53, doi. 10.1086/432578

By:

Catalano-Pons, Charlotte;
Quartier, Pierre;
Leruez-Ville, Marianne;
Kaguelidou, Florentia;
Gendrel, Dominique;
Lenoir, Gérard;
Casanova, Jean-Laurent;
Bonnet, Damien

Publication type:

Article

Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the β1 Subunit of the Interleukin (IL)--12/IL-23 Receptor.

Published in:

Clinical Infectious Diseases, 2005, v. 41, n. 4, p. e31, doi. 10.1086/432119

By:

de Moraes-vasconcelos, Dewton;
Grumach, Anete S.;
Yamaguti, Augusto;
Andrade, Maria Elisa B.;
Fieschi, Claire;
de Beaucoudrey, Ludovic;
Casanova, Jean-Laurent;
Duarte, Alberto J. S.

Publication type:

Article

High Risk of Infectious Disease Caused by Salmonellae and Mycobacteria Infections in Patients with Crohn Disease Treated with Anti--Interleukin-12 Antibody.

Published in:

2005

By:

Fieschi, Claire;
Allez, Matthieu;
Casanova, Jean-Laurent

Publication type:

Letter

Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency.

Published in:

Clinical Infectious Diseases, 2005, v. 40, n. 9, p. 1227, doi. 10.1086/428733

By:

Chapel, Helen;
Puel, Anne;
von Bernuth, Horst;
Picard, Capucine;
Casanova, Jean-Laurent

Publication type:

Article

Interleukin-12 Receptor β1 Chain Deficiency in a Child with Disseminated Tuberculosis.

Published in:

Clinical Infectious Diseases, 2005, v. 40, n. 6, p. e55, doi. 10.1086/427879

By:

Ozbek, Namik;
Fieschi, Claire;
Yilmaz, Bafak T.;
De Beaucoudrey, Ludovic;
Demirhan, Beyhan;
Feinberg, Jacqueline;
Bikmaz, Yunus Emre;
Casanova, Jean-Laurent

Publication type:

Article

Autoantibodies to Interferon-γ in a Patient with Selective Susceptibility to Mycobacterial Infection and Organ-Specific Autoimmunity.

Published in:

2004

By:

Döffinger, Rainer;
Helbert, Matthew R.;
Barcenas-Morales, Gabriela;
Kun Yang;
Dupuis, Stephanie;
Ceron-Gutierrez, Lourdes;
Espitia-Pinzon, Clara;
Barnes, Neil;
Bothamley, Graham;
Casanova, Jean-Laurent;
Longhurst, Hilary J.;
Kumararatne, Dinakantha S.

Publication type:

Report

Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor β1 Deficiency.

Published in:

Clinical Infectious Diseases, 2003, v. 37, n. 2, p. 302, doi. 10.1086/375587

By:

Caragol, Isabel;
Raspall, Miquel;
Fieschi, Claire;
Feinberg, Jaqueline;
N. Larrosa, Maria;
hernández, Manuel;
Figueras, Conception;
Bertrán, Jose-Maria;
Casanova, Jean-Laurent;
Espanol, Teresa

Publication type:

Article

Interleukin-12 Receptor β1 Deficiency Presenting as Recurrent Salmonella Infection.

Published in:

Clinical Infectious Diseases, 2003, v. 37, n. 1, p. 137, doi. 10.1086/375229

By:

Staretz-Haham, Orna;
Melamed, Rimma;
Lifshitz, Matitiahu;
Porat, Nurith;
Fieschi, Claire;
Casanova, Jean Laurent;
Levy, Jacov

Publication type:

Article

Enteroviral Meningoencephalitis after Anti-CD20 (Rituximab) Treatment.

Published in:

Clinical Infectious Diseases, 2003, v. 36, n. 3, p. e47, doi. 10.1086/345746

By:

Quartier, Pierre;
Tournilhac, Olivier;
Archimbaud, Christine;
Lazaro, Leila;
Chaleteix, Carine;
Millet, Pascale;
Peigue-Lafeuille, Hélène;
Blanche, Stéphane;
Fischer, Alain;
Casanova, Jean-Laurent;
Travade, Philippe;
Tardieu, Marc

Publication type:

Article

Propionibacterium acnes Chest Infections in Patients with Chronic Granulomatous Disease: Case Reports.

Published in:

2002

By:

Bourdeaut, Franck;
Quartier, Pierre;
Alkaer, Groob;
Fischer, Alain;
Casanova, Jean-Laurent;
Blanche, St é phane

Publication type:

Case Study

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.

Published in:

Pediatric & Developmental Pathology, 2017, v. 20, n. 3, p. 255, doi. 10.1177/1093526616686255

By:

Boudjemaa, Sabah;
Dainese, Linda;
Héritier, Sébastien;
Masserot, Caroline;
Hachemane, Samia;
Casanova, Jean-Laurent;
Coulomb, Aurore;
Bustamante, Jacinta

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

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

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Published in:

Frontiers in Immunology, 2016, p. 1, doi. 10.3389/fimmu.2016.00220

By:

Maffucci, Patrick;
Filion, Charles A.;
Boisson, Bertrand;
Itan, Yuval;
Lei Shang;
Casanova, Jean-Laurent;
Cunningham-Rundles, Charlotte;
Abraham, Roshini Sarah;
Forbes, Lisa Renee

Publication type:

Article

Deciphering human cell-autonomous anti-HSV-1 immunity in the central nervous system.

Published in:

Frontiers in Immunology, 2015, p. 1, doi. 10.3389/fimmu.2015.00208

By:

Lafaille, Fabien G.;
Ciancanelli, Michael J.;
Studer, Lorenz;
Smith, Gregory;
Notarangelo, Luigi;
Casanova, Jean-Laurent;
Zhang, Shen-Ying

Publication type:

Article

Novel primary immunodeficiency candidate genes predicted by the human gene connectome.

Published in:

Frontiers in Immunology, 2015, v. 6, p. 1, doi. 10.3389/fimmu.2015.00142

By:

Itan, Yuval;
Casanova, Jean-Laurent

Publication type:

Article

Corrigendum: Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

Published in:

2014

By:

Al-Herz, Waleed;
Bousfiha, Aziz;
Casanova, Jean-Laurent;
Chatila, Talal;
Conley, Mary Ellen;
Cunningham-Rundles, Charlotte;
Etzioni, Amos;
Franco, Jose Luis;
Bobby Gaspar, H.;
Holland, Steven M.;
Klein, Christoph;
Shigeaki Nonoyama;
Ochs, Hans D.;
Oksenhendler, Erik;
Picard, Capucine;
Puck, Jennifer M.;
Sullivan, Kate;
Tang, Mimi L. K.

Publication type:

Correction Notice

Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

Published in:

Frontiers in Immunology, 2014, v. 5, p. 1, doi. 10.3389/fimmu.2014.00162

By:

Al-Herz, Waleed;
Bousfiha, Aziz;
Casanova, Jean-Laurent;
Chatila, Talal;
Conley, Mary Ellen;
Cunningham-Rundles, Charlotte;
Etzioni, Amos;
Franco, Jose Luis;
Gaspar, H. Bobby;
Holland, Steven M.;
Klein, Christoph;
Nonoyama, Shigeaki;
Ochs, Hans D.;
Oksenhendler, Erik;
Picard, Capucine;
Puck, Jennifer M.;
Sullivan, Kate;
Tang, Mimi L. K.

Publication type:

Article

Disseminated bacillus Calmette-Guérin infection and immunodeficiency.

Published in:

2007

By:

Bernatowska, Ewa Anna;
Wolska-Kusnierz, Beata;
Pac, Malgorzata;
Kurenko-Deptuch, Magdalena;
Zwolska, Zofia;
Casanova, Jean-Laurent;
Piatosa, Barbara;
Van Dongen, Jacques;
Roszkowski, Kazimierz;
Mikoluc, Bozena;
Klaudel-Dreszler, Maja;
Liberek, Anna

Publication type:

Letter

Diagnosis of IRAK-4-deficiency by flow cytometric measurement of IκB-α degradation.

Published in:

Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 4, p. e102, doi. 10.1515/cclm-2023-0999

By:

Frans, Glynis;
Michiels, Birthe;
Picard, Capucine;
Ampofo, Louanne;
Raes, Marc;
Toelen, Jaan;
Bucciol, Giorgia;
van der Werff ten Bosch, Jutte;
Moens, Leen;
Wuyts, Greet;
Dillaerts, Doreen;
Casanova, Jean-Laurent;
Schrijvers, Rik;
Meyts, Isabelle;
Bossuyt, Xavier

Publication type:

Article

A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 690, doi. 10.1038/ejhg.2011.260

By:

Pedergnana, Vincent;
Gessain, Antoine;
Tortevoye, Patricia;
Byun, Minji;
Bacq-Daian, Delphine;
Boland, Anne;
Casanova, Jean-Laurent;
Abel, Laurent;
Plancoulaine, Sabine

Publication type:

Article

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01867-1

By:

Lima de Souza, Suiane;
Asano, Takaki;
Glumoff, Virpi;
Keskitalo, Salla;
Pikkarainen, Keela;
Martelius, Timi;
Kaustio, Meri;
Saarela, Janna;
Kuismin, Outi;
Lappi-Blanco, Elisa;
Jartti, Airi;
Yannopoulos, Fredrik;
Tiitto, Leena;
Seppänen, Mikko R. J.;
Boisson, Bertrand;
Casanova, Jean-Laurent;
Varjosalo, Markku;
Hautala, Timo;
Chen, Zhi

Publication type:

Article

Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01839-x

By:

Le Stang, Valentine;
Bastard, Paul;
Langouet, Elise;
Pineton de Chambrun, Marc;
Chommeloux, Juliette;
Gervais, Adrian;
Bizien, Lucy;
Puel, Anne;
Cobat, Aurélie;
Mayaux, Julien;
Demoule, Alexandre;
Casanova, Jean-Laurent;
Boutolleau, David;
Combes, Alain;
Burrel, Sonia;
Luyt, Charles-Edouard

Publication type:

Article

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01843-1

By:

Baran, Alperen;
Atılgan Lülecioğlu, Aysima;
Gao, Liwei;
Yazıcı, Yılmaz Yücehan;
Demirel, Fevzi;
Metin, Ayşe;
Casanova, Jean-Laurent;
Puel, Anne;
Voyer, Tom Le;
Beyaz, Şengül;
Belkaya, Serkan

Publication type:

Article

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Published in:

2024

By:

Utsumi, Takanori;
Tsumura, Miyuki;
Yashiro, Masato;
Kato, Zenichiro;
Noma, Kosuke;
Sakura, Fumiaki;
Kagawa, Reiko;
Mizoguchi, Yoko;
Karakawa, Shuhei;
Ohnishi, Hidenori;
Cunningham-Rundles, Charlotte;
Arkwright, Peter D.;
Kobayashi, Masao;
Kanegane, Hirokazu;
Bogunovic, Dusan;
Boisson, Bertrand;
Casanova, Jean-Laurent;
Asano, Takaki;
Okada, Satoshi

Publication type:

Correction Notice

A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01774-x

By:

Huynh, Aimee;
Gray, Paul E;
Sullivan, Anna;
Mackie, Joseph;
Guerin, Antoine;
Rao, Geetha;
Pathmanandavel, Karrnan;
Mina, Erika Della;
Hollway, Georgina;
Hobbs, Matthew;
Enthoven, Karen;
O'Young, Patrick;
McManus, Sam;
Wainwright, Luke H.;
Higgins, Megan;
Noon, Fallon;
Wong, Melanie;
Bastard, Paul;
Zhang, Qian;
Casanova, Jean-Laurent

Publication type:

Article

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x

By:

Utsumi, Takanori;
Tsumura, Miyuki;
Yashiro, Masato;
Kato, Zenichiro;
Noma, Kosuke;
Sakura, Fumiaki;
Kagawa, Reiko;
Mizoguchi, Yoko;
Karakawa, Shuhei;
Ohnishi, Hidenori;
Cunningham-Rundles, Charlotte;
Arkwright, Peter D.;
Kobayashi, Masao;
Kanegane, Hirokazu;
Bogunovic, Dusan;
Boisson, Bertrand;
Casanova, Jean-Laurent;
Asano, Takaki;
Okada, Satoshi

Publication type:

Article

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x

By:

Utsumi, Takanori;
Tsumura, Miyuki;
Yashiro, Masato;
Kato, Zenichiro;
Noma, Kosuke;
Sakura, Fumiaki;
Kagawa, Reiko;
Mizoguchi, Yoko;
Karakawa, Shuhei;
Ohnishi, Hidenori;
Cunningham-Rundles, Charlotte;
Arkwright, Peter D.;
Kobayashi, Masao;
Kanegane, Hirokazu;
Bogunovic, Dusan;
Boisson, Bertrand;
Casanova, Jean-Laurent;
Asano, Takaki;
Okada, Satoshi

Publication type:

Article

Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01757-y

By:

Arango-Franco, Carlos A.;
Rojas, Julian;
Firacative, Carolina;
Migaud, Mélanie;
Agudelo, Clara Inés;
Franco, José Luis;
Casanova, Jean-Laurent;
Puel, Anne;
Lizarazo, Jairo;
Castañeda, Elizabeth;
Arias, Andrés A.

Publication type:

Article

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

Published in:

2024

By:

Huynh, Aimee;
E Gray, Paul;
Sullivan, Anna;
Mackie, Joseph;
Guerin, Antoine;
Rao, Geetha;
Pathmanandavel, Karrnan;
Della Mina, Erika;
Hollway, Georgina;
Hobbs, Matthew;
Enthoven, Karen;
O'Young, Patrick;
McManus, Sam;
H. Wainwright, Luke;
Higgins, Megan;
Noon, Fallon;
Wong, Melanie;
Bastard, Paul;
Zhang, Qian;
Casanova, Jean-Laurent

Publication type:

Correction Notice

Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency.

Published in:

2024

By:

Chbihi, Marwa;
Boutboul, David;
Berteloot, Laureline;
Casanova, Jean-Laurent;
Bustamante, Jacinta;
Lévy, Romain

Publication type:

Letter

Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01724-7

By:

Tomomasa, Dan;
Lee, Beom Hee;
Hirata, Yuki;
Inoue, Yuzaburo;
Majima, Hidetaka;
Imanaka, Yusuke;
Asano, Takaki;
Katakami, Takashi;
Lee, Jina;
Hijikata, Atsushi;
Worakitchanon, Wittawin;
Yang, Xi;
Wang, Xiaowen;
Watanabe, Akira;
Kamei, Katsuhiko;
Kageyama, Yasufumi;
Seo, Go Hun;
Fujimoto, Akihiro;
Casanova, Jean-Laurent;
Puel, Anne

Publication type:

Article

Gérard Orth: From Viral to Human Genes Underlying Warts.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01704-x

By:

Casanova, Jean-Laurent;
Jouanguy, Emmanuelle

Publication type:

Article

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01661-5

By:

Rosain, Jérémie;
Kiykim, Ayca;
Michev, Alexandre;
Kendir-Demirkol, Yasemin;
Rinchai, Darawan;
Peel, Jessica N.;
Li, Hailun;
Ocak, Suheyla;
Ozdemir, Pinar Gokmirza;
Le Voyer, Tom;
Philippot, Quentin;
Khan, Taushif;
Neehus, Anna-Lena;
Migaud, Mélanie;
Soudée, Camille;
Boisson-Dupuis, Stéphanie;
Marr, Nico;
Borghesi, Alessandro;
Casanova, Jean-Laurent;
Bustamante, Jacinta

Publication type:

Article