diptericins |
DIRCs |
CD41 |
||
[deficiency of the IL1 receptor antagonist] This term has been proposed by Aksentijevich I et al (2009) for an autosomal recessive autoinflammatory disease caused by mutations affecting IL1ra [IL1 receptor antagonist] encoded by the IL1RN gene. The mutations in the IL1ra gene result in a truncated protein that is not secreted, thereby rendering cells hyperresponsive to IL1-beta stimulation, resulting in life-threatening systemic inflammation with skin and bone involvement. Patients treated with Anakinra respond rapidly.
... ... ... ... ... Subscribe to continue reading! ... ...
Content view restricted ! |