title: Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene.
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.
authors.affiliation: Division of Infectious Diseases, Foothills Hospital.
authors.forename: J A
authors.initials: JA
authors.lastname: Cunningham
authors.forename: J D
authors.initials: JD
authors.lastname: Kellner
authors.forename: P J
authors.initials: PJ
authors.lastname: Bridge
authors.forename: C L
authors.initials: CL
authors.lastname: Trevenen
authors.forename: D R
authors.initials: DR
authors.lastname: Mcleod
authors.forename: H D
authors.initials: HD
authors.lastname: Davies
mesh_terms: D001500:BCG Vaccine / Q000009:adverse effects*; D001706:Biopsy; D017809:Fatal Outcome; D017353:Gene Deletion; D006801:Humans; D016867:Immunocompromised Host; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D007223:Infant; D007371:Interferon-gamma / Q000235:genetics*; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D009163:Mycobacterium bovis / Q000302:isolation & purification; D017471:Receptors, Interferon / Q000235:genetics*; D014376:Tuberculosis / Q000209:etiology* / Q000382:microbiology; D000096743:Interferon gamma Receptor
chemical_list: D001500:BCG Vaccine; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor