Editorial: Advances in Primary Immunodeficiency in Central-Eastern Europe

by Malgorzata Pac, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Ismail Reisli, László Maródi
Published 2021-05-01

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses

by Sarah J. de Jong, Elias Imahorn, Peter Itin, Peter Itin, Jouni Uitto, Jouni Uitto, Gérard Orth, Emmanuelle Jouanguy, Emmanuelle Jouanguy, Emmanuelle Jouanguy, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Bettina Burger
Published 2018-06-01

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

by Laura Dotta, Donatella Vairo, Mauro Giacomelli, Daniele Moratto, Nicola Tamassia, William Vermi, Silvia Lonardi, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jacinta Bustamante, Jacinta Bustamante, Jacinta Bustamante, Jacinta Bustamante, Silvia Giliani, Raffaele Badolato
Published 2020-06-01

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

by Karina S. Gobin, Mary Hintermeyer, Bertrand Boisson, Bertrand Boisson, Bertrand Boisson, Maya Chrabieh, Maya Chrabieh, Pegah Ghandil, Pegah Ghandil, Pegah Ghandil, Pegah Ghandil, Anne Puel, Anne Puel, Capucine Picard, Capucine Picard, Capucine Picard, Capucine Picard, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, John Routes, James Verbsky
Published 2018-03-01

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

by Karina Gobin, Mary Hintermeyer, Bertrand Boisson, Bertrand Boisson, Bertrand Boisson, Maya Chrabieh, Maya Chrabieh, Pegah Ghandil, Pegah Ghandil, Pegah Ghandil, Pegah Ghandil, Anne Puel, Anne Puel, Capucine Picard, Capucine Picard, Capucine Picard, Capucine Picard, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, John Routes, James Verbsky
Published 2017-04-01

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

by David Requena, Patrick Maffucci, Patrick Maffucci, Patrick Maffucci, Benedetta Bigio, Lei Shang, Avinash Abhyankar, Bertrand Boisson, Bertrand Boisson, Bertrand Boisson, Peter D. Stenson, David N. Cooper, Charlotte Cunningham-Rundles, Charlotte Cunningham-Rundles, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Laurent Abel, Laurent Abel, Laurent Abel, Yuval Itan, Yuval Itan
Published 2018-06-01

Approach to recurrent Herpes Simplex Encephalitis in children

by Abdulrahman Alsweed, Mohammed Alsuhibani, Jean-Laurent Casanova, Sami Al-Hajjar
Published 2018-06-01

Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome

by Brahim Belaid, Brahim Belaid, Lydia Lamara Mahammed, Lydia Lamara Mahammed, Aida Mohand Oussaid, Aida Mohand Oussaid, Melanie Migaud, Melanie Migaud, Yasmine Khadri, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Anne Puel, Anne Puel, Anne Puel, Nafissa Ben Halla, Nafissa Ben Halla, Reda Djidjik, Reda Djidjik
Published 2021-06-01

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

by Suzan A. AlKhater, Caroline Deswarte, Jean‐Laurent Casanova, Jacinta Bustamante
Published 2020-06-01

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

by Sigifredo Pedraza-Sánchez, Jose Luis Lezana-Fernández, Yolanda Gonzalez, Luis Martínez-Robles, María Laura Ventura-Ayala, Stanislaw Sadowinski-Pine, Margarita Nava-Frías, Sarbelio Moreno-Espinosa, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Anne Puel, Anne Puel, Anne Puel, Stephanie Boisson-Dupuis, Stephanie Boisson-Dupuis, Stephanie Boisson-Dupuis, Martha Torres
Published 2017-12-01

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

by Shokouh azam SARRAFZADEH, Maryam MAHLOOJIRAD, Maryam NOURIZADEH, Jean-Laurent CASANOVA, Zahra POURPAK, Jacinta BUSTAMANTE, Mostafa MOIN
Published 2016-02-01

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

by Shokouh Azam SARRAFZADEH, Maryam MAHLOOJIRAD, Maryam NOURIZA­DEH, Jean-Laurent CASANOVA, Zahra POURPAK, Jacinta BUSTAMANTE, Mostafa MOIN
Published 2016-03-01

Controlling for human population stratification in rare variant association studies

by Matthieu Bouaziz, Jimmy Mullaert, Benedetta Bigio, Yoann Seeleuthner, Jean-Laurent Casanova, Alexandre Alcais, Laurent Abel, Aurélie Cobat
Published 2021-09-01

Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy

by Necil Kutukculer, Anne Puel, Sanem Eren Akarcan, Kunihiko Moriya, Neslihan Edeer Karaca, Melanie Migaud, Jean-Laurent Casanova, Guzide Aksu
Published 2019-01-01

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN

by Nermeen Galal, Jeannette Boutros, Aisha Marsafy, Xiao-Fei Kong, Jacqueline Feinberg, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Jacinta Bustamante
Published 2012-05-01

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

by Martin Rottman, Claire Soudais, Guillaume Vogt, Laurent Renia, Jean-François Emile, Hélène Decaluwe, Jean-Louis Gaillard, Jean-Laurent Casanova
Published 2008-01-01

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN

by Nermeen Galal, Jeannette Boutros, Aisha Marsafy, Xiao-Fei Kong, Jacqueline Feinberg, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Jacinta Bustamante
Published 2012-01-01

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

by Frédégonde About, Frédégonde About, Stéphanie Bibert, Emmanuelle Jouanguy, Emmanuelle Jouanguy, Bertrand Nalpas, Lazaro Lorenzo, Lazaro Lorenzo, Vimel Rattina, Vimel Rattina, Mohammed Zarhrate, Sylvain Hanein, Sylvain Hanein, Mona Munteanu, Beat Müllhaupt, David Semela, Nasser Semmo, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Ioannis Theodorou, Philippe Sultanik, Thierry Poynard, Thierry Poynard, Stanislas Pol, Pierre-Yves Bochud, Aurélie Cobat, Aurélie Cobat, Laurent Abel, Laurent Abel, Laurent Abel, The Swiss Hepatitis C Cohort Study Group, The French ANRS HC EP 26 Genoscan Study Group, Francesco Negro, Antoine Hadengue, Laurent Kaiser, Laura Rubbia-Brandt, Darius Moradpour, Cristina Cellerai, Martin Rickenbach, Andreas Cerny, Gladys Martinetti, Jean-François Dufour, Meri Gorgievski, Virginie Masserey Spicher, Markus Heim, Hans Hirsch, Beat Helbling, Stephan Regenass, Raffaele Malinverni, Guenter Dollenmaier, Gieri Cathomas
Published 2019-11-01

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

by Saul Oswaldo Lugo Reyes, Nizar Mahlaoui, Carolina Prando, Lizbeth Blancas Galicia, Marjorie Hubeau, Stéphane Blanche, Capucine Picard, Jean-Laurent Casanova, Jacinta Bustamante
Published 2013-01-01

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

by Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis
Published 2013-01-01