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Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.


ABSTRACT: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated Mycobacterium bovis-Bacillus Calmette-Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females. After BCG vaccination, 12 patients (70%) developed BCG infection. Furthermore, 6 (22%) patients developed bacterial infections mainly caused by Salmonella, as what is described next in the text is fungal infections, particularly Histoplasma. Seven patients died of disseminated BCG disease. Thirteen different pathogenic variants were identified in IL12RB1 (n = 13), IFNGR1 (n = 3), and IFNGR2 (n = 1) genes. Interleukin-12Rβ1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection.

SUBMITTER: Penafiel Vicuna AK 

PROVIDER: S-EPMC9428379 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.

Peñafiel Vicuña Ana Karen AK   Yamazaki Nakashimada Marco M   León Lara Ximena X   Mendieta Flores Elizabeth E   Nuñez Núñez María Enriqueta ME   Lona-Reyes Juan Carlos JC   Hernández Nieto Leticia L   Ramírez Vázquez María Guadalupe MG   Barroso Santos Joel J   López Iñiguez Álvaro Á   González Yolanda Y   Torres Martha M   Lezana Fernández José Luis JL   Román Montes Carla M CM   Medina-Torres Edgar Alejandro EA   González Serrano Edith E   Bustamante Ogando Juan Carlos JC   Lugo Reyes Saúl S   Zavaleta Martínez Oscar O   Staines Boone Aidé Tamara AT   Venegas Montoya Edna E   Aguilar Gómez Nancy Evelyn NE   Soudeé Camille C   Jouanguy Emmanuelle E   Puel Anne A   Boisson-Dupuis Stéphanie S   Pedraza Sánchez Sigifredo S   Casanova Jean-Laurent JL   Espinosa Rosales Francisco F   Espinosa Padilla Sara S   Bustamante Jacinta J   Blancas Galicia Lizbeth L  

Journal of clinical immunology 20220831 1


Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated Mycobacterium bovis-Bacillus Calmette-Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were  ...[more]

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