Article
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.
The Journal of clinical investigation - 1 Dec 1997
Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondanèche M C, Tuerlinckx D, Blanche S, Emile J F, Gaillard J L, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova J L
Abstract excerpt
Complete interferon-gamma receptor 1 (IFNgammaR1) deficiency has been identified previously as a cause of fatal bacillus Calmette-Guérin (BCG) infection with lepromatoid granulomas, and of disseminated nontuberculous mycobacterial (NTM) infection in children who had not been inoculated with BCG....
Topics
- Adolescent
- BCG Vaccine
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Membrane Proteins
- Mutation
- Mycobacterium bovis
- Pedigree
- Receptor, Interferon alpha-beta
- Receptors, Interferon
- Tuberculosis