Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene [Case Study]
Authors: J.A. Cunningham1; J.D. Kellner2; P.J. Bridge3; C.L. Trevenen4; D.R. Mcleod5; H.D. Davies2
Source: The International Journal of Tuberculosis and Lung Disease, Volume 4, Number 8, August 2000 , pp. 791-794(4)
Publisher: International Union Against Tuberculosis and Lung Disease
Abstract:
Six weeks after receiving BCG vaccination, a Canadian aboriginal infant presented with suspected sepsis, lymphadenopathy and hepatosplenomegaly. Lymph node biopsy revealed macrophages filled with acid-fast bacilli. Mycobacterium bovis was cultured from tissue specimens and there was evidence of concomitant cytomegalovirus disease. The infant died of disseminated BCG infection. A novel deletion at nucleotide 165 in the interferon-gamma receptor (IFN-
R1) was identified. The incidence of this mutation in the aboriginal population and the impact on the heterozygous state are unknown.
Keywords: BCG; interferon-gamma receptor; immunodeficiency
Document Type: Short communication
Affiliations: 1: Division of Infectious Diseases, Foothills Hospital, Calgary, Alberta, Canada; and the Department of Microbiology and Infectious Diseases, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada 2: Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada; and the Department of Microbiology and Infectious Diseases, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada 3: Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada 4: Department of Pathology and Laboratory Medicine, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada 5: Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada; and Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada
Publication date: 2000-08-01
- The International Journal of Tuberculosis and Lung Disease publishes articles on all aspects of lung health, including public health-related issues such as training programmes, cost-benefit analysis, legislation, epidemiology, intervention studies and health systems research. The IJTLD is dedicated to the continuing education of physicians and health personnel and the dissemination of information on tuberculosis and lung health world-wide.
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