Cause of New Autoinflammatory Disease Discovered

Researchers find cause of autoinflammatory disease CRIA syndrome

(RxWiki News) Researchers said they have found the cause of a new autoinflammatory disease.

This new disease is now known as CRIA syndrome. And researchers are saying that gene mutations could be the cause.

Autoinflammatory diseases are caused by the body's own immune system; the body attacks itself by mistake. As a result, the person may experience muscle and joint aches, tissue swelling and organ problems.

Recently, seven patients from three families came to the National Institutes of Health (NIH) Clinical Center with symptoms like those associated with an autoinflammatory disease. At the time, there was no information about the possible cause of their condition.

They came in with fever, swollen lymph nodes, headaches, and severe stomach pain and stomach/intestine problems. Some of these patients had a larger-than-normal spleen and liver.

A team of researchers, led by Dr. Daniel Kastner of the NIH’s National Human Genome Research Institute (NHGRI) and Dr. John Silke at the Walter and Eliza Hall Institute in Australia, investigated the cause of this disease.

The research team found that mutations in the RIPK1 gene are the cause of this new autoinflammatory disease.

In terms of treatments, tocilizumab seemed to reduce the severity and frequency of symptoms of CRIA syndrome, according to the NIH. This medication seemed to work for five out of the seven patients.

Speak with your health care provider if you have any questions.

Written by Anyssa Garza, PharmD, BCMAS

Last Updated:
January 22, 2020