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

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 infection by M. tuberculosis complex in patient with IFN-γ receptor 1 complete deficiency

by María Cecilia Martínez-Morales, María Cecilia Martínez-Morales, Carolina Deswarte, Carolina Deswarte, Jessica Castañeda-Casimiro, Jessica Castañeda-Casimiro, Jacinta Bustamante, Jacinta Bustamante, Lizbeth Blancas-Galicia, Lizbeth Blancas-Galicia, Selma Cecilia Scheffler-Mendoza
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

Interferon-γ Autoantibodies as Predisposing Factor for Nontuberculous Mycobacterial Infection

by Florent Valour, Thomas Perpoint, Agathe Sénéchal, Xiao-Fei Kong, Jacinta Bustamante, Tristan Ferry, Christian Chidiac, Florence Ader
Published 2016-06-01

Perianal Disease and Granulomas: Think Out of the Box…

by Ana Reis-Melo, Maria do Céu Espinheira, Isabel Pinto-Pais, Artur Bonito Vitor, Jacinta Bustamante, Eunice Trindade
Published 2019-10-01

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

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

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

by Guadalupe Buda, Rita María Valdez, German Biagioli, Federico A. Olivieri, Nicolás Affranchino, Carolina Bouso, Vanesa Lotersztein, Dusan Bogunovic, Jacinta Bustamante, Marcelo A. Martí
Published 2020-09-01

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

Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency

by Seyed Alireza Mahdaviani, Majid Marjani, Mahnaz Jamee, Armin Khavandegar, Hosseinali Ghaffaripour, Golnaz Eslamian, Mehdi Ghaini, Shabnam Eskandarzadeh, Jean-Laurent Casanova, Jacinta Bustamante, Davood Mansouri, Ali Akbar Velayati
Published 2021-06-01

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

Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease

by Itzel López-Hernández, Caroline Deswarte, Miguel Ángel Alcantara-Ortigoza, María del Mar Saez-de-Ocariz, Marco Antonio Yamazaki-Nakashimada, Sara Elva Espinosa-Padilla, Jacinta Bustamante, Lizbeth Blancas-Galicia
Published 2019-08-01

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

by Aidé Tamara Staines-Boone, Caroline Deswarte, Edna Venegas Montoya, Edna Venegas Montoya, Luz María Sánchez-Sánchez, Jorge Alberto García Campos, Teodoro Muñiz-Ronquillo, Jacinta Bustamante, Francisco J. Espinosa-Rosales, Saul Oswaldo Lugo Reyes
Published 2017-05-01

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

by Niusha Sharifinejad, Seyed Alireza Mahdaviani, Mahnaz Jamee, Zahra Daneshmandi, Afshin Moniri, Majid Marjani, Payam Tabarsi, Parisa Farnia, Mahsa Rekabi, Mazdak Fallahi, Seyedeh Atefeh Hashemimoghaddam, Masoumeh Mohkam, Jacinta Bustamante, Jean-Laurent Casanova, Davood Mansouri, Ali Akbar Velayati
Published 2021-08-01

Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency

by Katharina Hahn, Liart Pollmann, Juliette Nowak, Ariane Hai Ha Nguyen, Kathrin Haake, Anna-Lena Neehus, Syed F. Hassnain Waqas, Frank Pessler, Ulrich Baumann, Miriam Hetzel, Jean-Laurent Casanova, Ansgar Schulz, Jacinta Bustamante, Mania Ackermann, Nico Lachmann
Published 2020-06-01

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

Novel mutations in NCF4 gene confer non-classic chronic granulomatous disease with disseminated histoplasmosis in a Colombian child

by Carlos Andrés Arango-Franco, Alejandro Nieto-Patlán, Marcela Moncada-Vélez, Jesús Armando Álvarez, Carmen Oleaga-Quinta, Caroline Deswarte, Juan Fernando Alzate, Felipe Cabarcas, Carlos Garcés, Julio César Orrego, Susana Pamela Mejía, Luz Elena Cano, Jean-Laurent Casanova, Jacinta Bustamante, José Luis Franco, Andrés Augusto Arias
Published 2018-06-01