Ontology highlight
ABSTRACT:
SUBMITTER: Allende LM
PROVIDER: S-EPMC96022 | biostudies-literature | 2001 Jan
REPOSITORIES: biostudies-literature
Allende L M LM López-Goyanes A A Paz-Artal E E Corell A A García-Pérez M A MA Varela P P Scarpellini A A Negreira S S Palenque E E Arnaiz-Villena A A
Clinical and diagnostic laboratory immunology 20010101 1
Gamma interferon (IFN-gamma) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-gamma receptor ligand-binding chain (IFN-gammaR1) deficiency present gross mutations that truncate the protein and prevent its expression, giving rise to severe mycobacterial infections and, frequently, a fatal outcome. In this report a new mutation that affects the IFN-gammaR1 ligand-binding domain in a Spanish patient with mycobacterial diss ...[more]