Novel immune deficiency syndrome caused by mutations in IKBKB gene
Three patients with complex immune disorder have been found to possess mutations within IKBKB gene sequence.
The findings join family of 300 various single-gene mutations leading to rare immunological diseases.
IKBKB is involved in signaling pathways essential for immune cells. Its mutations were known to disrupt protein product and therefore cause disorders. However, in analysed patients, cell lines and model animals did not harm protein, but caused overactivity. The mutations were determined to be gain-of-function mutations (in this case – pathological function).
The main detected mutation was change of single nucleotide in c.607 position (G to A).
More: “Gain-of-function IKBKB mutation causes human combined immune deficiency”, C. Cardinez et al., 2018, doi:doi.org/10.1084/jem.20180639.