A novel human immunodeficiency syndrome described
Researchers have discovered a novel immune syndrome in two patients on separate continents. The study reveals that a mutation in a gene called IKBKB disrupts the immune system, leading to excessive inflammation and the loss of both T and B white blood cells.

A team of researchers analyzed a group of immunodeficient patients in Australia and Japan and identified two unrelated patients -one in each country -carrying an identical mutation in a gene called IKBKB.

Both patients seemed to have developed the mutation "de novo," rather than inheriting it from their parents. Their symptoms were slightly different, but they were both susceptible to recurrent infections and showed signs of excessive inflammation. Both patients had reduced numbers of antibody-producing B cells and two types of effector T cells that help the body fight off infections. However, the T cells that remained appeared to be more prone to activation.

The IKBKB gene encodes an enzyme called IKK2 that controls the development and activation of white blood cells by regulating the NF-kB cell signaling pathway. Mutations that inhibit IKK2 and NF-kB signaling are known to cause severe early onset immune deficiencies. But the mutation found in the two Australian and Japanese patients seems to result in a hyperactive form of IKK2 that increases NF-kB cell signaling.

Read in detail here: https://pxmd.co/P3J0K
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