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

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 hea...

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Detalles Bibliográficos
Autores principales: Peñafiel Vicuña, Ana Karen, Yamazaki Nakashimada, Marco, León Lara, Ximena, Mendieta Flores, Elizabeth, Nuñez Núñez, María Enriqueta, Lona-Reyes, Juan Carlos, Hernández Nieto, Leticia, Ramírez Vázquez, María Guadalupe, Barroso Santos, Joel, López Iñiguez, Álvaro, González, Yolanda, Torres, Martha, Lezana Fernández, José Luis, Román Montes, Carla M., Medina-Torres, Edgar Alejandro, González Serrano, Edith, Bustamante Ogando, Juan Carlos, Lugo Reyes, Saúl, Zavaleta Martínez, Oscar, Staines Boone, Aidé Tamara, Venegas Montoya, Edna, Aguilar Gómez, Nancy Evelyn, Soudeé, Camille, Jouanguy, Emmanuelle, Puel, Anne, Boisson-Dupuis, Stéphanie, Pedraza Sánchez, Sigifredo, Casanova, Jean-Laurent, Espinosa Rosales, Francisco, Espinosa Padilla, Sara, Bustamante, Jacinta, Blancas Galicia, Lizbeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428379/
https://www.ncbi.nlm.nih.gov/pubmed/36044171
http://dx.doi.org/10.1007/s10875-022-01357-8
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10875-022-01357-8.

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