NDLI: Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Pedraza-Sánchez, Sigifredo Herrera-Barrios, Maria Teresa Aldana-Vergara, Ruth Neumann-Ordoñez, Milagros González-Hernández, Yolanda Sada-Díaz, Eduardo de Beaucoudrey, Ludovic Casanova, Jean-Laurent Torres-Rojas, Martha
Spatial Coverage	Mexico
Description	Country affiliation: Mexico Author Affiliation: Pedraza-Sánchez S ( Department of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubirán, Vasco de Quiroga 15, Delegación Tlalpan, Mexico. spedraza@rocketmail.com)
Abstract	Patients with Mendelian susceptibility to mycobacterial diseases (MSMD) mainly suffer from Mycobacterium and Salmonella infections, which are due to mutations in genes controlling the interleukin (IL)-12/IL-23-dependent IFN-Î³ production. We performed a molecular diagnosis in two Mexican patients with persistent mycobacterial infections. Patients 1 (P1) and 2 (P2) from two unrelated, non-consanguineous families from two villages near Mexico City developed bacille Calmette-Guérin (BCG) disease secondary to vaccination; patients and their families were studied at the immunological level for production and response to IFN-Î³. The ß1 subunit of the IL-12 receptor (encoded by the IL12RB1 gene) was not expressed in cells from P1 or P2, or in two siblings of P1. Sequencing of the IL12RB1 gene showed the same point mutation 1791+2 T>G, homozygous in patients and heterozygous in parents. P1 and P2 died at the ages of 4 and 16 years, respectively, with disseminated and uncontrolled BCG disease and with Candida albicans infections in spite of multiple anti-mycobacterial drug treatments. One of P2's siblings also died following disseminated mycobacterial infection secondary to BCG vaccination. These are the first cases in Mexico of patients with BCG disease traced to a mutation in the IL12RB1 gene, with a fatal outcome. Doctors must be alert to the adverse reactions to BCG vaccination and to persistent Mycobacterium infections, and in such cases should investigate possible mutations in the genes of the IL-12/IL-23-IFN-Î³ axis.
File Format	HTM / HTML
ISSN	12019712
e-ISSN	18783511
Journal	International Journal of Infectious Diseases
Issue Number	Suppl 3
Volume Number	14
Language	English
Publisher	Elsevier
Publisher Date	2010-09-01
Publisher Place	Canada
Access Restriction	Open
Subject Keyword	Discipline Communicable Diseases Mycobacterium Bovis Pathogenicity Point Mutation Receptors, Interleukin-12 Genetics Tuberculosis Etiology Adolescent Bcg Vaccine Adverse Effects Child, Preschool Dna Mutational Analysis Fatal Outcome Infant Interferon-gamma Biosynthesis Mexico Pedigree Immunology Microbiology Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Case study Article
Subject	Infectious Diseases Microbiology (medical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Lactobacilli Isolated From Wild Boar (Sus scrofa) Antagonize Mycobacterium bovis Bacille Calmette-Guerin (BCG) in a Species-Dependent Manner

Histopathologic differences in granulomas of Mycobacterium bovis bacille Calmette Guérin (BCG) vaccinated and non-vaccinated cattle with bovine tuberculosis

Repeated inoculations of Mycobacterium bovis Bacille Calmette-Guérin (BCG) are needed to induce a strong humoral immune response against antigens expressed by the bacteria

Mycobacterium bovis Bacille-Calmette-Guérin Infection Aggravates Atherosclerosis

A Human Challenge Model for Mycobacterium tuberculosis Using Mycobacterium bovis Bacille Calmette-Guérin

Comparison of the Protective Efficacy of Bacille Calmette-Guérin Vaccination against Aerosol Challenge with Mycobacterium tuberculosis and Mycobacterium bovis

Vaccination-related Mycobacterium bovis BCG infection.

Identification of N6,N6-Dimethyladenosine in Transfer RNA from Mycobacterium bovis Bacille Calmette-Guérin

Nicotinamide Limits Replication of Mycobacterium tuberculosis and Bacille Calmette-Guérin Within Macrophages

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

Similar Documents

Lactobacilli Isolated From Wild Boar (Sus scrofa) Antagonize Mycobacterium bovis Bacille Calmette-Guerin (BCG) in a Species-Dependent Manner

Histopathologic differences in granulomas of Mycobacterium bovis bacille Calmette Guérin (BCG) vaccinated and non-vaccinated cattle with bovine tuberculosis

Repeated inoculations of Mycobacterium bovis Bacille Calmette-Guérin (BCG) are needed to induce a strong humoral immune response against antigens expressed by the bacteria

Mycobacterium bovis Bacille-Calmette-Guérin Infection Aggravates Atherosclerosis

A Human Challenge Model for Mycobacterium tuberculosis Using Mycobacterium bovis Bacille Calmette-Guérin

Comparison of the Protective Efficacy of Bacille Calmette-Guérin Vaccination against Aerosol Challenge with Mycobacterium tuberculosis and Mycobacterium bovis

Vaccination-related Mycobacterium bovis BCG infection.

Identification of N6,N6-Dimethyladenosine in Transfer RNA from Mycobacterium bovis Bacille Calmette-Guérin

Nicotinamide Limits Replication of Mycobacterium tuberculosis and Bacille Calmette-Guérin Within Macrophages

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.