1. Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
- Author
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Peñafiel Vicuña AK, Yamazaki Nakashimada M, León Lara X, Mendieta Flores E, Nuñez Núñez ME, Lona-Reyes JC, Hernández Nieto L, Ramírez Vázquez MG, Barroso Santos J, López Iñiguez Á, González Y, Torres M, Lezana Fernández JL, Román Montes CM, Medina-Torres EA, González Serrano E, Bustamante Ogando JC, Lugo Reyes S, Zavaleta Martínez O, Staines Boone AT, Venegas Montoya E, Aguilar Gómez NE, Soudeé C, Jouanguy E, Puel A, Boisson-Dupuis S, Pedraza Sánchez S, Casanova JL, Espinosa Rosales F, Espinosa Padilla S, Bustamante J, and Blancas Galicia L
- Subjects
- Male, Female, Humans, Retrospective Studies, BCG Vaccine, Genetic Predisposition to Disease, Mexico epidemiology, Receptors, Interleukin-12 genetics, Mycobacterium Infections epidemiology, Mycobacterium Infections genetics, Mycobacterium bovis
- 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., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Published
- 2023
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