Researchers discover new autoinflammatory disease and its associated mutations

Researchers are reporting discovery of a previously unidentified autoinflammatory disorder that triggers mysterious fevers every few weeks.  They found that the disorder involves mutations in the RIPK1 gene, which makes a key protein in the mediation of cell death and inflammation. The finding could lead to a treatment of this new disorder as well as other diseases involving this gene, including some that affect the blood vessels, they say.

An international team of scientists identified three families in the United States whose members suffered from similar autoimmune symptoms and discovered that they all had irregularities in RIPK1. The symptoms of seven of the patients in these families included episodic fevers, swollen lymph glands, and other inflammatory symptoms beginning in early childhood and continuing throughout adulthood.

In laboratory studies, the researchers showed that the seven patients had different mutations but at the exact same location of the RIPK1 gene. The researchers found that their condition is a new autoimmune disease they named CRIA syndrome, or cleavage-resistant RIPK1-induced autoinflammatory syndrome. The discovery of CRIA syndrome and its associated mutations could lead to efforts to treat this disorder by targeting RIPK1 as well as lead to new treatments for a broad spectrum of related human illnesses, including colitis, arthritis, and psoriasis, the researchers say. Drugs that target RIPK1 are currently in development but not yet approved for medicinal use. 

The study, partly funded by NHLBI and other NIH institutes, appears in Nature. One of the coauthors of the paper was Manfred Boehm, M.D., senior investigator in the Laboratory of Cardiovascular Regenerative Medicine at NHLBI.

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