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Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
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.
  • Peñafiel Vicuña AK; Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
  • Yamazaki Nakashimada M; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico.
  • León Lara X; Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
  • Mendieta Flores E; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico.
  • Nuñez Núñez ME; Allergy and Immunology Department, IMSS, "Centro Médico La Raza", Mexico City, Mexico.
  • Lona-Reyes JC; Allergy and Immunology Department, Nuevo Hospital Civil de Guadalajara", Guadalajara, Jalisco, Mexico.
  • Hernández Nieto L; Infectious Disease Department, "Hospital Civil de Guadalajara Dr. Juan I Menchaca", Guadalajara, Jalisco, Mexico.
  • Ramírez Vázquez MG; Clinical Immunology Department, "Hospital Juárez de México", Mexico City, Mexico.
  • Barroso Santos J; Allergy and Immunology Department, "Hospital de Niño DIF Hidalgo", Pachuca, Hidalgo, Mexico.
  • López Iñiguez Á; Allergy and Immunology Department, "Hospital de Niño DIF Hidalgo", Pachuca, Hidalgo, Mexico.
  • González Y; Infectious Disease Department, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Torres M; Microbiology Department, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico.
  • Lezana Fernández JL; Tuberculosis Immunobiology Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas", Mexico City, Mexico.
  • Román Montes CM; Pulmonary Physiology Laboratory, "Hospital Infantil de México Federico Gómez", Mexico City, Mexico.
  • Medina-Torres EA; Clinical Microbiology Laboratory, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • González Serrano E; Infectious Disease Department, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Bustamante Ogando JC; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico.
  • Lugo Reyes S; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico.
  • Zavaleta Martínez O; Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
  • Staines Boone AT; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico.
  • Venegas Montoya E; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico.
  • Aguilar Gómez NE; Allergy and Immunology Department, ISSEMYN, Toluca, Estado de México, Mexico.
  • Soudeé C; Immunology Department, "Unidad Médica de Alta Especialidad" # 25, IMSS, Monterrey, Mexico.
  • Jouanguy E; Immunology Department, "Unidad Médica de Alta Especialidad" # 25, IMSS, Monterrey, Mexico.
  • Puel A; Infectious Disease Department, National Institute of Pediatrics, Mexico City, Mexico.
  • Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
  • Pedraza Sánchez S; Imagine Institute, Paris Cité University, Paris, France.
  • Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
  • Espinosa Rosales F; Imagine Institute, Paris Cité University, Paris, France.
  • Espinosa Padilla S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
  • Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
  • Blancas Galicia L; Imagine Institute, Paris Cité University, Paris, France.
J Clin Immunol ; 2022 Aug 31.
Article in English | MEDLINE | ID: covidwho-2234299
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-12Rß1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection.
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Full text: Available Collection: International databases Database: MEDLINE Type of study: Cohort study / Observational study / Prognostic study Topics: Vaccines / Variants Country/Region as subject: Mexico Language: English Year: 2022 Document Type: Article Affiliation country: S10875-022-01357-8

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Full text: Available Collection: International databases Database: MEDLINE Type of study: Cohort study / Observational study / Prognostic study Topics: Vaccines / Variants Country/Region as subject: Mexico Language: English Year: 2022 Document Type: Article Affiliation country: S10875-022-01357-8