A team of doctors from all over the world saved a newborn's life. The child suffers from a rare genetic disease which, under normal conditions, kills within a few weeks. Today the boy is 3 years old and is in remission. The article published in the New England Journal of Medicine exposes the efforts of an international team, united in a case of USP18 deficiency. Doctors have developed new genetic diagnosis and immunotherapy techniques to save a Saudi child. The baby should have died a few weeks after giving birth. Instead, he is alive and recovering from the disease.

USP18 is a gene that codes for a protein involved in the immune system, which regulates the reaction to inflammation. When an anomaly is present, uncontrolled inflammations are triggered which kill in the womb or shortly after birth. However, the researchers found that JAK1 inhibitors replace USP18, avoiding the lethal progression of the disease.

The researchers started with a young ICU patient. The little boy showed an abnormal version of USP18. Scientists analyzed it and identified the consequences of the anomalies. From here they traced the functions of the protein, identifying those critical in the progression of genetic disease. This allowed them to identify the drugs needed to keep the baby alive, while looking for more definitive treatments.

After further analysis, doctors started giving ruxolitinib twice a day. Within two weeks, the symptoms subsided and the baby improved. The child will have to take the drug for life, at least until a definitive cure is found. At the very least, he can lead an almost normal life.

Source: mountsinai.org