CRIA Syndrome (cleavage-resistant RIPK1-induced autoinflammatory) syndrome is caused by mutations in a critical cell death component called RIPK1.
Characteristics of CRIA Syndrome
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 essential 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.