Partial Interferon-γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette-Guérin and Mycobacterium abscessus Infection

R Döfflnger, E Jouanguy, S Dupuis… - The Journal of …, 2000 - academic.oup.com
Complete deficiency of either of the two human interferon (IFN)-γ receptor components, the
ligand-binding IFN-γ R1 chain and the signaling IFN-γ R2 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-γ R1 deficiency is associated with a milder histopathologic and clinical
phenotype. Cells from a 20-year-old healthy person with a history of curable infections due …

Partial Interferon-gamma Receptor Signaling Chain Deficiency in a Patient with Bacille...

R Doffinger, E Jouanguy, S Dupuis… - Journal of Infectious …, 2000 - search.ebscohost.com
Investigates the partial interferon-gamma receptor signaling chain deficiency in patients with
BCG and Mycobacterium abscessus infection. Correlation between human interferon (IFN)-
gammaR1 deficiency and nontuberculous mycobacterial infection; Mechanism of partial loss
of cell responsiveness to IFN-gamma; Determination of histopathologic-lesions associated
mycobacterial infection.