title: High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.
abstract: We have found that children with complete interferon gamma (IFNgamma) receptor deficiency, unlike patients with other genetic defects predisposing them to mycobacterial diseases, have very high levels of IFNgamma in their plasma. This unexpected observation provides a simple and accurate diagnostic method for complete IFNgamma receptor deficiency in children with clinical disease caused by bacille Calmette-Guérin vaccines or environmental nontuberculous mycobacteria.
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Fieschi
authors.forename: S
authors.initials: S
authors.lastname: Dupuis
authors.forename: C
authors.initials: C
authors.lastname: Picard
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
authors.forename: S M
authors.initials: SM
authors.lastname: Holland
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D001500:BCG Vaccine / Q000009:adverse effects; D004797:Enzyme-Linked Immunosorbent Assay / Q000706:statistics & numerical data; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007371:Interferon-gamma / Q000097:blood* / Q000235:genetics; D009164:Mycobacterium Infections / Q000097:blood* / Q000235:genetics / Q000382:microbiology; D009170:Nontuberculous Mycobacteria / Q000235:genetics / Q000472:pathogenicity; D017471:Receptors, Interferon / Q000097:blood / Q000172:deficiency*; D000096743:Interferon gamma Receptor
chemical_list: D001500:BCG Vaccine; D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor