One of the first people in the world to be diagnosed with a rare genetic disease has welcomed a network to share expertise on her condition. Geraldine, 75, has mendelian susceptibility to ...

Researchers from Tokyo Medical and Dental University (TMDU) find three novel variants in STAT1 that cause Mendelian susceptibility to mycobacterial disease Tokyo, Japan – Usually, the scariest part of ...

About a quarter of the world's population is infected with tuberculosis bacteria, according to the World Health Organization, but only about 5 to 10% of those infected will develop symptoms. These ...

Researchers have determined that enhanced bone resorption activity due to a faulty immune response may underpin multifocal osteomyelitis -- painful, chronic bone infections -- in children with MSMD, a ...

Researchers at Hiroshima University have discovered the mechanism underlying multifocal osteomyelitis in MSMD patients with poor response to IFN-γ. IFN-γ plays an inhibitory role in osteoclast ...