FAMILIAL DISSEMINATED INFECTION DUE TO ATYPICAL MYCOBACTERIA WITH CHILDHOOD-ONSET

We describe two brothers of consanguineous Pakistani parents who lived in Norway and had disseminated infections due to nontuberculous mycob acteria, The first boy developed clinical signs of disseminated BCG in fection after vaccination. He was successfully treated with antimycoba cterial agents. Two and one-half years later, he developed disseminate d Mycobacterium avium complex infection and died at 6 years of age. Th e second boy, born 5 years after the death of his brother, did not rec eive BCG vaccine, At 2 years of age, he developed disseminated M. aviu m complex infection, Because he responded only partly to specific chem otherapy, empirical interferon gamma treatment was added to the antimy cobacterial regimen. After 2 years of combined therapy, his condition is stable. Studies of peripheral blood mononuclear cells from the seco nd boy demonstrated reduced surface expression of the ligand binding c hain of interferon gamma receptor 1, This defect explains the increase d susceptibility to mycobacterial disease in the two brothers.