In the last 20 years we have discovered thousands of new diseases and now doctors at Children’s Hospital of Philadelphia (CHOP) have discovered a new disease in a child that does not have antibodies in its body. Were becoming
A seven-month-old baby was brought to the hospital with an ear infection, red spots on his face and signs of constant fatigue. Doctors examined a child named Luke in detail and found that there were no antibodies in his body. Although the condition was similar to X-linked agameglobulinemia which has been discovered in children. At first, the idea went that way, but further investigation revealed that Luke was not suffering from the disease.
A full genetic analysis of Luke’s body revealed that Luke’s body was not producing B cells and antibodies due to genetic mutations. In this way, he has been suffering from all kinds of infections. This disease is called PU.1 Mutated agammaglobulinemia. It is now called PUMA for short.
After that, several scientists from the hospital and the university sat together and did a thorough research on the baby and found that he was born without B lymphocytes. These cells make antibodies. It turned out that there was a big change in the gene called SPI1.
In the next phase, Luke’s brother’s bone marrow was transferred from Luke to Luke and he is now well. Although it is a new rare disease, its cure has also come to light.
