Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

• DOI: 10.1086/315197
• Publication Date: 2002-07-26T18:58:45Z
• Authors: Rainer Döffinger; Emmanuelle Jouanguy; Stéphanie Dupuis; Marie‐Claude Fond...; Jean‐Louis Stephan; Jean‐François Emile; Salma Lamhamedi‐C...; Frédéric Altare; Annaïck Pallier; Gabriela Barcenas...; Edgar Meinl; Christopher Krause; Sidney Pestka; Robert D. Schreiber; Francesco Novelli; Jean‐Laurent Casa...
• Keywords: Nontuberculous Mycobacteria; Mycobacterium abscessus

Complete deficiency of either the two human interferon (IFN)-γ receptor components, ligand-binding IFN-γR1 chain and signaling IFN-γR2 chain, is invariably associated with early-onset infection caused by bacille Calmette-Guérin vaccines and/or environmental nontuberculous mycobacteria, poor granuloma formation, a fatal outcome in childhood. Partial milder histopathologic clinical phenotype. Cells from 20-year-old healthy person history curable infections due to Mycobacterium abscessus mature granulomas childhood were investigated. There was homozygous nucleotide substitution IFNGR2, causing an amino acid extracellular region encoded receptor. Cell surface detected flow cytometry. Cellular responses IFN-γ impaired but not abolished. Transfection wild-type IFNGR2 gene restored full responsiveness IFN-γ. This first demonstration partial humans.