Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association by Martin Martinot, Anne Sophie Korganow, Mathieu Wald, Julie Second, Elodie Birckel, Antoine Mahé, Laurent Souply, Mahsa Mohseni-Zadeh, Laure Droy, Julien Tarabeux, Satoshi Okada, Mélanie Migaud, Anne Puel, Anne Puel, Anne Puel, Aurelien Guffroy

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Chronic mucocutaneous candidiasis with severe oral injury associated with a STAT 1 gain-of-function mutation by Chaimae Mahad, Bouchra Baghad, Ahmed Aziz Bousfiha, Anne Puel, Ihsane Benyahya

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Severe Dermatophytosis and Acquired or Innate Immunodeficiency: A Review by Claire Rouzaud, Roderick Hay, Olivier Chosidow, Nicolas Dupin, Anne Puel, Olivier Lortholary, Fanny Lanternier

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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

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Case Report: Invasive Cryptococcosis in French Guiana: Immune and Genetic Investigation in Six Non-HIV Patients by Jeanne Goupil de Bouillé, Jeanne Goupil de Bouillé, Loïc Epelboin, Loïc Epelboin, Fanny Henaff, Mélanie Migaud, Philippe Abboud, Denis Blanchet, Denis Blanchet, Christine Aznar, Christine Aznar, Felix Djossou, Felix Djossou, Olivier Lortholary, Narcisse Elenga, Narcisse Elenga, Anne Puel, Anne Puel, Anne Puel, Fanny Lanternier, Fanny Lanternier, Fanny Lanternier, Magalie Demar, Magalie Demar

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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

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No increased prevalence of autoantibodies neutralizing type I IFNs in idiopathic pulmonary fibrosis patients by Quentin Philippot, Paul Bastard, Anne Puel, Jean-Laurent Casanova, Aurélie Cobat, Cédric Laouénan, Coralie Tardivon, Bruno Crestani, Raphael Borie

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Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiation by Carys A. Croft, Anna Thaller, Solenne Marie, Jean-Marc Doisne, Laura Surace, Rui Yang, Anne Puel, Jacinta Bustamante, Jean-Laurent Casanova, James P. Di Santo

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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

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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

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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

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Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe by Gaspard Kerner, Anna-Lena Neehus, Quentin Philippot, Jonathan Bohlen, Darawan Rinchai, Nacim Kerrouche, Anne Puel, Shen-Ying Zhang, Stéphanie Boisson-Dupuis, Laurent Abel, Jean-Laurent Casanova, Etienne Patin, Guillaume Laval, Lluis Quintana-Murci

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Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome by Seyed Alireza Mahdaviani, Soodeh Ghadimi, Mazdak Fallahi, Seyedeh Atefeh Hashemi-Moghaddam, Zahra Chavoshzadeh, Anne Puel, Nima Rezaei, Mahsa Rekabi, Zahra Daneshmandi, Kambiz Sheikhy, Abolghasem Daneshvar Kakhki, Seyed Reza Saghebi, Saviz Pejhan, Mahnaz Jamee

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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

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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

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Invasive Rhinosinusitis Caused by <i>Alternaria infectoria</i> in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature by Olivier Paccoud, Nicolas Vignier, Mohammed Boui, Mélanie Migaud, Pierre Vironneau, Romain Kania, Frédéric Méchaï, Sophie Brun, Alexandre Alanio, Arnault Tauziède-Espariat, Homa Adle-Biassette, Elise Ouedraogo, Jacinta Bustamante, Olivier Bouchaud, Jean-Laurent Casanova, Anne Puel, Fanny Lanternier

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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

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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

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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

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Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy by Yujiao Zhang, Marie Vandestienne, Jean-Rémi Lavillegrand, Jeremie Joffre, Icia Santos-Zas, Aonghus Lavelle, Xiaodan Zhong, Wilfried Le Goff, Maryse Guérin, Rida Al-Rifai, Ludivine Laurans, Patrick Bruneval, Coralie Guérin, Marc Diedisheim, Melanie Migaud, Anne Puel, Fanny Lanternier, Jean-Laurent Casanova, Clément Cochain, Alma Zernecke, Antoine-Emmanuel Saliba, Michal Mokry, Jean-Sebastien Silvestre, Alain Tedgui, Ziad Mallat, Soraya Taleb, Olivia Lenoir, Cécile Vindis, Stéphane M. Camus, Harry Sokol, Hafid Ait-Oufella

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