New immune disease appears

A new study published in Science describes 9 cases of children with normal infections due to a deficiency in the MyD88 gene - an important gene for protecting children from infection at birth.

From birth, all of us are constantly exposed to germs, bacteria that can cause illness. So we have an immune system that works extremely well. The active immune system allows the body to detect and eliminate inflammatory triggers. Part of this mechanism forms from birth (already born) and the rest improves after we come into contact with pathogens.

At birth, the immune system has affected inflammation with an injection reaction that causes fever, pain and increased white blood cell counts, along with the expansion of blood vessels in the affected area. This reaction has the effect of isolating and destroying pathogens, and also gives a warning that something is wrong with our body.

An international study related to the participation of BV Germans Trias, Clinic and Sant Joan de Déu (Barcelona city) and Dr. Dr. Negrín in Las Palmas de Gran Canaria has discovered a strange disease. Scientists have found that in patients with this disease, the immune system is unusually active from birth.

Pneumococcus looks through a microscope (Photo: Merckmedicus)

The study describes 9 children with severe common infections, especially pneumococci and staphylococci. These 9 children did not respond to inflammation with the injection reactions; ie: they do not have a fever and have not seen any increase in white blood cells in the blood. At the same time these children were taken to the doctor, the infection spread widely. In fact, 3 of these 9 children, aged between 1 and 11 months, died.

The most curious thing is that children infected with this disease can eliminate other types of infections and respond to vaccines and antibiotics. That means that their immune system is able to detect strange bacteria and stimulate the production of antibodies.

A genetic analysis of these children eventually showed a deficiency in a gene called myD88, a gene needed for accurate detection of inflammation caused by pathogens and antagonists. against it.

To make sure this is the cause of the disease, researchers used genetically modified animals with this modified gene.

Unlike infected children, these animals appear to be more susceptible to many pathogens, not just pneumococci and staph. This suggests that the human immune system has other mechanisms to compensate for My D88 deficiency.

Another suspicion of the study authors is that infected children become better when their age increases. Research still needs to validate these hypotheses.

Currently, 6 surviving patients are between the ages of 3 and 16 years. These patients are being treated with antibiotics that work against pneumococcal infection and staph and are still living normally.

The research is from the Necker Hospital in Paris. In addition, the study also supports 4 centers in Spain, and many other centers from the United States, Thailand, Turkey, Portugal, France, England, Hungary, Israel and Canada. Of the 9 patients, 2 were diagnosed at Hospital Germans Trias, 2 patients at Hospital Sant Joan de Déu, 2 in Portugal, 1 in France and 1 in Turkey.