刊物主题:Biomedicine Immunology Infectious Diseases Internal Medicine Medical Microbiology
出版者:Springer Netherlands
ISSN:1573-2592
文摘
Purpose Complete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The purpose of this article is to describe a large novel deletion found in 3 related cases, which resulted in the complete removal of the IFNGR1 gene.