Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease

• Asıl Yazarlar: Maria J. Gutierrez MD (Yazar), Neelu Kalra MD (Yazar), Alexandra Horwitz MD (Yazar), Gustavo Nino MD (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: SAGE Publishing, 2016-11-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Mendelian susceptibility to mycobacterial diseases (MSMD) are a spectrum of inherited disorders characterized by localized or disseminated infections caused by atypical mycobacteria. Interferon-γ receptor 1 (IFNGR1) deficiency was the first identified genetic disorder recognized as MSMD. Mutations i...