Article
Novel STAT1 alleles in a patient with impaired resistance to mycobacteria.
Journal of clinical immunology - 1 Apr 2011
Kristensen Ines Ackerl, Veirum Jens Erik, Møller Bjarne Kuno, Christiansen Mette
Abstract excerpt
Partial defects in interferon (IFN)-γ signaling lead to susceptibility to infections with nontuberculous mycobacteria. The receptors for IFN-α and IFN-γ activate components of the Janus kinase-signal transducer and activator of transcription (STAT) signaling pathway. Some defects in STAT1 mainly affect IFN-γ signaling, thus resulting in mendelian susceptibility to mycobacterial disease (MSMD). MSMD is a severe...
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