Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation.
A previously healthy 13-year-old child who had disseminated Mycobacterium avium infection is described. Further history revealed disseminated mycobacterial infections in the patient's father and uncle, starting at 9 years old and 1 year old, respectively. Autosomal dominant interferon- gamma receptor mutation was subsequently identified. Clinical variability among the affected members of the same family is consistent with previous reports suggesting substantial variability in the clinical course of this disorder.
Han
Jin-Young
JY
Division of General Pediatrics, Childrens Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles 90033, USA.
Rosenzweig
Sergio D
SD
Church
Joseph A
JA
Holland
Steven M
SM
Ross
Lawrence A
LA
D000293:Adolescent; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009165:Mycobacterium Infections, Nontuberculous / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D009162:Mycobacterium avium; D010375:Pedigree; D017471:Receptors, Interferon / Q000235:genetics*; D000096743:Interferon gamma Receptor
D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor