Scientists have discovered a new rare disease that affects children. This condition is called Lyn kinase-associated vasculopathy and liver fibrosis, or LAVLI for short.
It is caused by changes in a gene known as LYN, which plays an important role in how the immune system works. This discovery could help doctors better understand immune diseases and may lead to new treatments in the future.
To understand LAVLI, it helps to know about autoinflammatory diseases. These are different from autoimmune diseases. In autoimmune diseases, the immune system attacks healthy parts of the body by mistake.
In autoinflammatory diseases, the immune system becomes active without any clear reason, causing long-term swelling and damage. Some examples include lupus, Crohn’s disease, and rheumatoid arthritis. These conditions often cause fever, tiredness, joint pain, and skin problems.
Doctors first found LAVLI when a young child showed unusual symptoms. Genetic tests revealed that the child had a mutation in the LYN gene.
Later, two more children were found to have different mutations in the same gene. All three children developed symptoms soon after birth, including liver problems and issues with their blood vessels.
One major symptom seen in these children was a condition where a type of white blood cell called a neutrophil attacked the small blood vessels in the skin. This led to swelling and damage in those areas.
Two of the children also developed liver fibrosis, which means scar tissue formed in their liver. This happens when the liver is hurt again and again. Over time, the scarring can make it hard for the liver to work properly.
Researchers found that the mutation made the Lyn kinase protein overactive. Normally, Lyn kinase helps control immune responses and then turns off. But in these children, the protein didn’t switch off.
This caused the immune system to send signals constantly, leading to too much inflammation. As a result, blood vessels were damaged and scar tissue formed in the liver.
This discovery is very important. It shows how the LYN gene helps control the immune system. By studying LAVLI, scientists now better understand how inflammation and scarring happen in the body. This could also help them find treatments for other conditions that involve blood vessel damage or liver scarring.
There is also hope that doctors may be able to treat this disease by targeting the LYN gene. If they can make drugs that calm down the overactive Lyn kinase, they might stop the immune system from doing too much damage. This would be a big step forward not just for LAVLI, but also for other immune-related diseases.
This research also shows how helpful genetic testing can be. For the children with LAVLI, finding the gene mutation helped doctors know what was causing the symptoms. As testing becomes more common, it may be easier to catch rare diseases early and treat them better.
The study was led by Dr. Adriana A. de Jesus and her team at the U.S. National Institute of Allergy and Infectious Diseases. Their findings were published in the journal Nature Communications.
This discovery gives doctors and scientists new hope for treating hard-to-understand immune diseases. It could also help many people in the future who have similar health problems.
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