Severe Dermatophytosis and Acquired or Innate Immunodeficiency: A Review

by Claire Rouzaud, Roderick Hay, Olivier Chosidow, Nicolas Dupin, Anne Puel, Olivier Lortholary, Fanny Lanternier
Published 2015-12-01

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

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

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

Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses

by François Danion, François Danion, Vishukumar Aimanianda, Jagadeesh Bayry, Amélie Duréault, Sarah Sze Wah Wong, Marie-Elisabeth Bougnoux, Marie-Elisabeth Bougnoux, Colas Tcherakian, Marie-Alexandra Alyanakian, Hélène Guegan, Hélène Guegan, Anne Puel, Anne Puel, Capucine Picard, Capucine Picard, Olivier Lortholary, Olivier Lortholary, Fanny Lanternier, Fanny Lanternier, Jean-Paul Latgé
Published 2020-01-01

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

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies

by Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer
Published 2017-01-01

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

by Alexandre Bolze, Avinash Abhyankar, Audrey V Grant, Bhavi Patel, Ruchi Yadav, Minji Byun, Daniel Caillez, Jean-Francois Emile, Marçal Pastor-Anglada, Laurent Abel, Anne Puel, Rajgopal Govindarajan, Loic de Pontual, Jean-Laurent Casanova
Published 2012-01-01

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

by Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen
Published 2010-01-01

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India

by Prasad D. Taur, Vijaya Gowri, Ambreen Abdulwahab Pandrowala, Vaishnavi V. Iyengar, Akshaya Chougule, Zainab Golwala, Shraddha Chandak, Reepa Agarwal, Purva Keni, Neha Dighe, Minnie Bodhanwala, Shakuntala Prabhu, Biju George, N. A. Fouzia, Eunice Sindhuvi Edison, Arun Kumar Arunachalam, Manisha Rajan Madkaikar, Aparna Dhondi Dalvi, Reetika Malik Yadav, Umair Ahmed Bargir, Priyanka Madhav Kambli, Amit Rawat, Jhumki Das, Vibhu Joshi, Rakesh Kumar Pilania, Ankur Kumar Jindal, Sunil Bhat, Sagar Bhattad, Jeeson Unni, Nita Radhakrishnan, Revathi Raj, Ramya Uppuluri, Shivani Patel, Harsha Prasada Lashkari, Amita Aggarwal, Manas Kalra, Zarir Udwadia, Vibha Sanjay Bafna, Tarun Kanade, Anne Puel, Anne Puel, Anne Puel, Jacinta Bustamante, Jacinta Bustamante, Jacinta Bustamante, Jacinta Bustamante, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Mukesh M. Desai
Published 2021-02-01

Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients

by Marcela Moncada-Vélez, Lucía Victoria Erazo-Borrás, Jesús Armando Álvarez-lvarez, Carlos Andrés Arango, Miyuki Tsumura, Satoshi Okada, Sara Daniela Osorio, Lorena Castro, Natalia González, Catalina Arango, Julio César Orrego, Lina Riaño, Juan Fernando Alzate, Felipe Cabarcas, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco
Published 2018-06-01

Next generation sequencing identifies mutations in Colombian patients with primary immunodeficiency diseases

by Carlos Andrés Arango-Franco, Marcela Moncada-Vélez, Alexander Franco-Gallego, Lucía Victoria Erazo, Catalina Martínez, Sebastián Gutiérrez, Jesús Armando Álvarez, Manuela Molina, Diana Arboleda, Laura Naranjo, Juan Álvaro López, Juan Fernando Alzate, Felipe Cabarcas, Claudia Milena Trujillo-Vargas, Julio César Orrego, Satoshi Okada, Anne Puel, Jacinta Bustamante, Jean-Laurent Casanova, Andrés Augusto Arias, José Luis Franco
Published 2018-06-01

A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

by Marieke De Bruyne, Marieke De Bruyne, Marieke De Bruyne, Levi Hoste, Levi Hoste, Delfien J. Bogaert, Delfien J. Bogaert, Delfien J. Bogaert, Delfien J. Bogaert, Lien Van den Bossche, Lien Van den Bossche, Simon J. Tavernier, Simon J. Tavernier, Eef Parthoens, Eef Parthoens, Mélanie Migaud, Deborah Konopnicki, Jean Cyr Yombi, Bart N. Lambrecht, Bart N. Lambrecht, Sabine van Daele, Ana Karina Alves de Medeiros, Lieve Brochez, Rudi Beyaert, Elfride De Baere, Anne Puel, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Christophe Goffard, Savvas N. Savvides, Savvas N. Savvides, Filomeen Haerynck, Filomeen Haerynck, Jens Staal, Melissa Dullaers, Melissa Dullaers
Published 2018-10-01