An experimental genetic treatment that restores the immune function of children with a rare disorder

Experimental genetic treatment has succeeded in restoring the immune function of nine children with a rare and life -threatening immunological disorder known as ‘serious white grain presentations’ of the first type. This disorder is a rare genetic condition that affects one in every million people around the world, and is caused by mutations in the gene responsible for the production of protein known as CD18, which allows white blood cells to move from the bloodstream to infection sites. In the absence of this important protein, patients, most of whom are diagnosed during the first months of their lives, are exposed to a dangerous bacterial and fungal infection. People with this deviation rarely live after childhood without treatment. According to a study published in the New England Journal of Medicine on Thursday, the researchers assessed the results two years after receiving treatment for nine patients between the ages of 5 months and 9 years, in three clinical experiences in 3 California, London and Madrid hospitals. The results have shown that all children respond to excellent treatment and now live without pathological symptoms, as skin sores and acute gums associated with the disease have disappeared, and that they could fight infection like their healthy counterparts. Effective guide said that the lead author of the study, Donald Cohen, professor of microbiology and immunity at the University of California, said that these children were no longer sentenced to diagnose it as they became in good health without a serious infection or continuous visits to the hospital, due to the effectiveness of this treatment. So far, the only treatment available to patients has been a bone marrow tillage of an identical donor, but this method poses great risks, such as major risks, such as the bait against the host, where the transplanted cells attack the recipient. Its roots “, by adjusting the stem cells of the patient himself, in a clever way similar to a programming corrosion procedures for an imbalance in a computer system. Multiply and produce what their normal function can perform in the action of blood vessels and move to infection sites to combat pathogens. Stem cells, and the immune system work effectively for the necessary treatments, it can be a self -planting “the genetic defect that causes the disease. The results showed that all patients have sufficient levels of CD18 protein, with a noticeable improvement in the number of white blood cells and a significant decrease in severe infections that require hospitalization, and that no serious side effects associated with genetic therapy have been reported. The experience of 3 siblings and among the nine patients joined a long -term follow -up study, where their condition will be monitored for 15 years to assess the continuity and safety of treatment, which is currently undergoing an overview of the US Food and Drug Administration, which in turn studies his license as a biological treatment. It is noteworthy that 3 of the patients who received the treatment are brothers and sisters who are AFA (9 years), Olivia (7 years) and Landon (5 years), John and Elisia Langel -Malhpha children, who were born with severe white grain reform and suffered from regular infection and long stay in hospital in their early years. “We felt that we were having a daily struggle. Every fever, every rash, was a source of terror for us,” Elishia said. In 2020, the parents decided to participate in the clinical experience, despite moving from Ohio to Los Angeles during the Corona virus pandemic, but today children live a normal life, where they go to school and play without fear, after overcoming the disease thanks to the genetic therapy. This achievement is a milestone in the field of genetic medicine as it opens the door for treatments similar to other rare diseases. The researchers also emphasized that encouraging results gives new hope to families facing difficult diagnoses, proving that science is capable of transforming suffering into success and inspiration stories.