A team of specialists from Australia and the United States has identified a new autoinflammatory condition in humans. They also understand what causes it, which can help researchers find an adequate treatment.
Researchers have identified a new autoinflammatory condition, which they have named CRIA syndrome.
Autoimmune conditions occur when the body’s immune response becomes abnormally activated. When this happens, it turns against healthy cells instead of just reacting to potentially harmful agents, such as viruses or dangerous bacteria, as it should.
Recurrent fevers with unclear causes and widespread inflammation characterize such conditions.
While they are not widespread, doctors often find autoinflammatory conditions challenging to diagnose. This is problematic, as these conditions can severely impact a person’s well-being and quality of life.
So far, researchers have identified only a handful of autoinflammatory conditions. They include familial Mediterranean fever, cryopyrin-associated periodic fever syndrome, Still’s disease, and periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA).
Recently, however, a team of experts from the University of Melbourne in Australia and the National Institutes of Health (NIH) in Bethesda, MD, has discovered another autoinflammatory condition.
The researchers have named it “cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome.” They explain how they discovered it and what they think might be the path towards a treatment in a study paper in the journal Nature.
A ‘remarkable’ finding
The researchers’ interest was piqued when members of three different families sought treatment for a mysterious autoinflammatory disorder whose main characteristics were states of fever and swelling of the lymph nodes.
These individuals reported that they first experienced the symptoms in childhood, though they had persisted through adulthood.
To try and find out what caused this unknown autoinflammatory condition, the researchers looked to the individuals’ DNA. The investigators found the condition’s root cause when they analyzed the exomes in DNA samples from the people who had CRIA syndrome. The exome is part of a person’s genetic material that encodes proteins.
By looking at the samples, the researchers made the intriguing discovery that all the people who had CRIA syndrome had a mutant RIPK1 gene.