Image: Protein structure of IKK2 with substituted amino acid (red) shown within the activating pocket in the kinase domain.
Researchers at the Centre for Personalised Immunology have discovered the genetic cause and mechanism of a disease resulting in recurrent infections and inflammation. The research was led by Matthew Cook from the Centre for Personalised Immunology and Hirokazu Kanegane from Tokyo Medical and Dental University. Researchers identified two unrelated patients carrying an identical mutation in a gene called IKBKB.
The symptoms affecting these patients are a combination of the immune system being too weak and not mounting a proper response, while in other respects producing an excessive response.
“It is a disease which is characterised by immune deficiency where patients get recurrent infections, especially chest infections, including recurrent pneumonia, but paradoxically patients also suffer inflammatory diseases of the skin, lymph nodes and the spleen,” said Professor Cook.