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  • Title: Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene.
    Author: Cunningham JA, Kellner JD, Bridge PJ, Trevenen CL, Mcleod DR, Davies HD.
    Journal: Int J Tuberc Lung Dis; 2000 Aug; 4(8):791-4. PubMed ID: 10949334.
    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-gammaR1) was identified. The incidence of this mutation in the aboriginal population and the impact on the heterozygous state are unknown.
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