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

Septins regulate bacterial entry into host cells.

by Serge Mostowy, To Nam Tham, Anne Danckaert, Stéphanie Guadagnini, Stéphanie Boisson-Dupuis, Javier Pizarro-Cerdá, Pascale Cossart
Published 2009-01-01

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

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

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

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

by Kathrin Haake, Anna-Lena Neehus, Theresa Buchegger, Mark Philipp Kühnel, Patrick Blank, Friederike Philipp, Carmen Oleaga-Quintas, Ansgar Schulz, Michael Grimley, Ralph Goethe, Danny Jonigk, Ulrich Kalinke, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante, Nico Lachmann
Published 2020-02-01

Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.

by Jocelyn Quistrebert, Marianna Orlova, Gaspard Kerner, Le Thi Ton, Nguyễn Trong Luong, Nguyễn Thanh Danh, Quentin B Vincent, Fabienne Jabot-Hanin, Yoann Seeleuthner, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Nguyen Thu Huong, Nguyen Ngoc Ba, Jean-Laurent Casanova, Christophe Delacourt, Eileen G Hoal, Alexandre Alcaïs, Vu Hong Thai, Lai The Thành, Laurent Abel, Erwin Schurr, Aurélie Cobat
Published 2021-03-01

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

by Ariane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Guillaume Vogt, Jacqueline Feinberg, Ada Prochnicka-Chalufour, Armanda Casrouge, Kun Yang, Claire Soudais, Claire Fieschi, Orchidée Filipe Santos, Jacinta Bustamante, Capucine Picard, Ludovic de Beaucoudrey, Jean-François Emile, Peter D Arkwright, Robert D Schreiber, Claudia Rolinck-Werninghaus, Angela Rösen-Wolff, Klaus Magdorf, Joachim Roesler, Jean-Laurent Casanova
Published 2006-08-01

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco.

by Ayoub Sabri, Jocelyn Quistrebert, Hicham Naji Amrani, Ahmed Abid, Adil Zegmout, Ismail Abderrhamani Ghorfi, Hicham Souhi, Abdelhalim Boucaid, Anas Benali, Rachid Abilkassem, Mohamed Kmari, Amal Hassani, Belyamani Lahcen, Samir Siah, Erwin Schurr, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Amine Lahlou, Abdelkader Laatiris, Lhoussain Louzi, Aziz Ouarssani, Ahmed Bourazza, Aziz Aouragh, Bensghir Mustapha, Nezha Messaoudi, Aomar Agader, Aurélie Cobat, Laurent Abel, Jamila El Baghdadi
Published 2019-01-01

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.

by Stéphanie Boisson-Dupuis, Jamila El Baghdadi, Nima Parvaneh, Aziz Bousfiha, Jacinta Bustamante, Jacqueline Feinberg, Arina Samarina, Audrey V Grant, Lucile Janniere, Naima El Hafidi, Amal Hassani, Daniel Nolan, Jilali Najib, Yildiz Camcioglu, Nevin Hatipoglu, Cigdem Aydogmus, Gonul Tanir, Caner Aytekin, Melike Keser, Ayper Somer, Guside Aksu, Necil Kutukculer, Davood Mansouri, Alireza Mahdaviani, Setareh Mamishi, Alexandre Alcais, Laurent Abel, Jean-Laurent Casanova
Published 2011-04-01

IRF4 haploinsufficiency in a family with Whipple’s disease

by Antoine Guérin, Gaspard Kerner, Nico Marr, Janet G Markle, Florence Fenollar, Natalie Wong, Sabri Boughorbel, Danielle T Avery, Cindy S Ma, Salim Bougarn, Matthieu Bouaziz, Vivien Béziat, Erika Della Mina, Carmen Oleaga-Quintas, Tomi Lazarov, Lisa Worley, Tina Nguyen, Etienne Patin, Caroline Deswarte, Rubén Martinez-Barricarte, Soraya Boucherit, Xavier Ayral, Sophie Edouard, Stéphanie Boisson-Dupuis, Vimel Rattina, Benedetta Bigio, Guillaume Vogt, Frédéric Geissmann, Lluis Quintana-Murci, Damien Chaussabel, Stuart G Tangye, Didier Raoult, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova
Published 2018-03-01