An international team of scientists has identified a novel and extremely rare genetic mutation with unprecedented capabilities that may change the world’s understanding of immune deficiencies.
The mutation has been named T95R and causes a host of changes to the transcription factor IRF4—a protein that is crucial for the development and function of the immune system. Transcription factors are proteins that bind to regions of DNA and regulate gene production.
“The mutation in question is different from others,” said a member of the international team, Associate Prof. Anselm Enders from the Australian National University (ANU), in a university release….