Article
Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.
The Journal of infectious diseases - 1 Jan 2000
Döffinger R, Jouanguy E, Dupuis S, Fondanèche M C, Stephan J L, Emile J F, Lamhamedi-Cherradi S, Altare F, Pallier A, Barcenas-Morales G, Meinl E, Krause C, Pestka S, Schreiber R D, Novelli F, Casanova J L
Abstract excerpt
Complete deficiency of either of the two human interferon (IFN)-gamma receptor components, the ligand-binding IFN-gammaR1 chain and the signaling IFN-gammaR2 chain, is invariably associated with early-onset infection caused by bacille Calmette-Guérin vaccines and/or environmental nontuberculous mycobacteria, poor granuloma formation, and a fatal outcome in childhood. Partial IFN-gammaR1 deficiency is associated...
Topics
- Adult
- BCG Vaccine
- DNA-Binding Proteins
- Female
- Genotype
- HLA-DR Antigens
- Homozygote
- Humans
- Mycobacterium Infections
- Mycobacterium bovis