CRIA syndrome (cleavage-resistant RIPK1-induced autoinflammatory) syndrome is caused by mutations in a critical cell death component called RIPK1.
Research teams led by Dr. Najoua Lalaoui and Professor John Silke from the Walter and Eliza Hall Institute of Medical Research in Australia, and Dr. Steven Boyden, Dr. Hirotsugu Oda and Dr. Dan Kastner from the NIH in the United States, have just published their findings in the Journal “Nature” in December 2019.
Patients diagnosed with CRIA syndrome show a history of episodic high fevers and painful swollen lymph nodes. They also presented many other inflammatory symptoms which began in childhood and continued into their adult years.
The mutation found in patients with CRIA syndrome blocks cleavage of RIPK1, which is very important in maintaining the normal function of the cell.
Patients who have been diagnosed with CRIA Syndrome have been treated with anti-inflammatory medications, including high doses of corticosteroids and biologics. Although some of the patients markedly improved on an interleukin-6 inhibitor, others responded less well or had significant side effects. It is thought that, RIPK1 inhibitors, which are already available on a research basis, may provide a focused, 'precision medicine' approach to treating patients.
We will be posting more information on this as soon as it is available.
Walter and Eliza Hall Institute. "New human autoinflammatory disease." ScienceDaily. ScienceDaily, 11 December 2019. www.sciencedaily.com/releases/2019/12/191211145617.htm
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature, 2019; DOI: 10.1038/s41586-019-1828-5