Familial Disseminated Infection Due to Atypical Mycobacteria with Childhood Onset

• Published in: Clinical infectious diseases Vol. 27; no. 4; pp. 822 - 825
• Main Authors: Vesterhus, Per, Holland, Steven M., Abrahamsen, Tore G., Bjerknes, Robert
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Chicago, IL The University of Chicago Press 01.10.1998; University of Chicago Press
• Subjects: Age of Onset; Atypical mycobacteria; Bacterial diseases; Biological and medical sciences; Blood; Child, Preschool; Clinical Articles; Disease susceptibility; Fungal diseases; Genetic Predisposition to Disease; Human bacterial diseases; Humans; Infections; Infectious diseases; Interferon gamma Receptor; Interferon-gamma - therapeutic use; Interferons; Male; Medical sciences; Mycobacterium avium; Mycobacterium avium Complex; Mycobacterium avium-intracellulare Infection - drug therapy; Mycobacterium avium-intracellulare Infection - genetics; Mycobacterium avium-intracellulare Infection - immunology; Peripheral blood mononuclear cells; Receptors; Receptors, Interferon - genetics; T lymphocytes; Tuberculosis and atypical mycobacterial infections; Human; Family study; Pathogenesis; Mycobacterium avium; Mycobacterial infection; Gene expression; Species complex; Infection; Case study; Mycobacteriales; Predisposition; Bacteriosis; Mycobacteriaceae; Bacteria; Actinomycetes; Disseminated; Child; Lymphocyte; Gamma interferon; Biological receptor
• ISSN: 1058-4838; 1537-6591
• DOI: 10.1086/514939

We describe two brothers of consanguineous Pakistani parents who lived in Norway and had disseminated infections due to nontuberculous mycobacteria. The first boy developed clinical signs of disseminated BCG infection after vaccination. He was successfully treated with antimycobacterial agents. Two and one-half years later, he developed disseminated Mycobacterium avium complex infection and died at 6 years of age. The second boy, born 5 years after the death of his brother, did not receive BCG vaccine. At 2 years of age, he developed disseminated M. avium complex infection. Because he responded only partly to specific chemotherapy, empirical interferon γ treatment was added to the antimycobacterial regimen. After 2 years of combined therapy, his condition is stable. Studies of peripheral blood mononuclear cells from the second boy demonstrated reduced surface expression of the ligand binding chain of interferon γ receptor 1. This defect explains the increased susceptibility to mycobacterial disease in the two brothers.