A new type of autoinflammatory disease has been discovered by a team of researchers at the National Human Genome Research Institute. The researchers analyzed a hereditary disease that has plagued three families over the past 20 years, a disease that the researchers called CRIA syndrome (cleavage-resistant RIPK1-induced autoinflammatory).
The disease presents itself as a typical autoinflammatory disease, one in which the immune system is activated without apparent cause. It is not a fatal disease but causes persistent fever and swollen lymph nodes from childhood to old age plus other minor symptoms that can lead to permanent pain and disability.
After ruling out various infections and cancer, the researchers analyzed the subjects’ genomes and found that a single gene, called RIPK1, was consistently different in all patients, belonging to three different families. The researchers then identified a genetic variation determined by a single letter of DNA in a specific location. This alteration causes an addition of amino acid to the protein.
Each of the three families showed its unique mutation, but it affected the same letter of DNA in the RIPK1 gene. After examining other cases with similar symptoms, the researchers came to the conclusion that this is a new, inexplicably sporadic and quite rare disease.
“It was as if lightning struck three times in the same place,” reports Daniel Kastner, a researcher who together with his team conducted the studies. “This discovery underlines the enormous power of combining intelligent clinical observation, state-of-the-art DNA sequencing and the sharing of sequence data in large, publicly accessible databases. We live in a very special time.”
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