Disseminated bacille Calmette-Guerin infection in an infant with a novel deletion in the interferon-gamma receptor gene

Six weeks after receiving BCG vaccination, a Canadian aboriginal infant pre sented with suspected sepsis, lymphadenopathy and hepatosplenomegaly. Lymph node biopsy revealed macrophages filled with acid-fast bacilli. Mycobacter ium bovis was cultured from tissue specimens and there was evidence of conc omitant cytomegalovirus disease. The infant died of disseminated BCG infect ion. A novel deletion at nucleotide 165 in the interferon-gamma receptor (I FN-gamma R1) was identified. The incidence of this mutation in the aborigin al population and the impact on the heterozygous state are unknown.