Mendelian susceptibility to mycobacterial disease: recent discoveries

par Bustamante, Jacinta
Publié dans Hum Genet (2020)

135 Mycobacterial Infections in cChildren With Chronic Granulomatous Disease

par Lugo-Reyes, Saul, Galicia, Lizbeth Blancas, Bustamante, Jacinta
Publié 2012

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

par Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent
Publié dans Semin Immunol (2014)

Life-threatening infections due to live attenuated vaccines: early manifestations of inborn errors of immunity

par Pöyhönen, Laura, Bustamante, Jacinta, Casanova, Jean-Laurent, Jouanguy, Emmanuelle, Zhang, Qian
Publié dans J Clin Immunol (2019)

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

par AlKhater, Suzan A., Deswarte, Caroline, Casanova, Jean‐Laurent, Bustamante, Jacinta
Publié dans Mol Genet Genomic Med (2020)

Genetic lessons learnt from X-linked Mendelian susceptibility to mycobacterial diseases

par Bustamante, Jacinta, Picard, Capucine, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent
Publié 2011

Primary immunodeficiencies underlying fungal infections

par Lanternier, Fanny, Cypowyj, Sophie, Picard, Capucine, Bustamante, Jacinta, Lortholary, Olivier, Casanova, Jean-Laurent, Puel, Anne
Publié 2013

Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review

par Tovo, Pier-Angelo, Garazzino, Silvia, Saglio, Francesco, Scolfaro, Carlo, Bustamante, Jacinta, Badolato, Raffaele, Fagioli, Franca
Publié dans J Clin Immunol (2020)

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

par SARRAFZADEH, Shokouh azam, MAHLOOJIRAD, Maryam, NOURIZADEH, Maryam, CASANOVA, Jean-Laurent, POURPAK, Zahra, BUSTAMANTE, Jacinta, MOIN, Mostafa
Publié dans Iran J Public Health (2016)

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

par SARRAFZADEH, Shokouh Azam, MAHLOOJIRAD, Maryam, NOURIZADEH, Maryam, CASANOVA, Jean-Laurent, POURPAK, Zahra, BUSTAMANTE, Jacinta, MOIN, Mostafa
Publié dans Iran J Public Health (2016)

EDA-ID: A severe clinical presentation associated with a new IKBKG mutation.

par Puvilland, Coline Bret, Boisson, Bertrand, Fusaro, Mathieu, Bustamante, Jacinta, Bertrand, Yves, Ceraulo, Antony, Ouachée-Chardin, Marie
Publié dans J Clin Immunol (2021)

Interferon-γ Autoantibodies as Predisposing Factor for Nontuberculous Mycobacterial Infection

par Valour, Florent, Perpoint, Thomas, Sénéchal, Agathe, Kong, Xiao-Fei, Bustamante, Jacinta, Ferry, Tristan, Chidiac, Christian, Ader, Florence
Publié dans Emerg Infect Dis (2016)

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

par Hatipoglu, Nevin, Güvenç, B. Haluk, Deswarte, Caroline, Koksalan, Kaya, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
Publié dans Pediatrics (2017)

Perianal Disease and Granulomas: Think Out of the Box…

par Reis-Melo, Ana, Espinheira, Maria do Céu, Pinto-Pais, Isabel, Bonito Vitor, Artur, Bustamante, Jacinta, Trindade, Eunice
Publié dans GE Port J Gastroenterol (2020)

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children

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

Disseminated mycobacterial disease in a patient with 22q11.2 deletion syndrome: case report and review of the literature

par Hoyos-Bachiloglu, Rodrigo, Gallo, Silvanna, Vizcaya, Cecilia, Zuñiga, Pamela, Valbuena, José R., Casanova, Jean Laurent, Bustamante, Jacinta, Borzutzky, Arturo
Publié dans J Clin Immunol (2019)

A genome-wide case-only test for the detection of digenic inheritance in human exomes

par Kerner, Gaspard, Bouaziz, Matthieu, Cobat, Aurélie, Bigio, Benedetta, Timberlake, Andrew T., Bustamante, Jacinta, Lifton, Richard P., Casanova, Jean-Laurent, Abel, Laurent
Publié dans Proc Natl Acad Sci U S A (2020)

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency

par Karaca, Neslihan Edeer, Boisson-Dupuis, Stephanie, Aksu, Güzide, Bustamante, Jacinta, Kandiloglu, Gulsen, Ozsan, Nazan, Hekimgil, Mine, Casanova, Jean-Laurent, Kutukculer, Necil
Publié 2012

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency

par Zahid, Mohammad Faizan, Ali, Syed Asad, Jehan, Fyezah, Billo, Abdul Gaffar, Casanova, Jean-Laurent, Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Mir, Fatima
Publié dans J immunodefic Disord (2014)

A new patient with inherited TYK2 Deficiency

par Sarrafzadeh, Shokouh Azam, Mahloojirad, Maryam, Casanova, Jean-Laurent, Badalzadeh, Mohsen, Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Pourpak, Zahra, Nourizadeh, Maryam, Moin, Mostafa
Publié dans J Clin Immunol (2019)