A genetic disease heretofore unknown in the scientific literature has been discovered by doctors at Hadassah Ein Kerem Hospital in Jerusalem. The doctors who succeeded in treating the disease are referring to it by the name TPP2 deficiency.
The disease affects the immune system and involves a certain protein deficiency in the blood which causes the immune system to attack itself. This in turn leads to an accelerated rate of aging in cells as well as severe side effects, and can even cause death. The disease is said to be common in societies in which close relatives marry each other.
The disease was first encountered ten years ago when a 21-month-old boy from Shechem (Nablus) in Samaria was brought to Hadassah suffering from severe symptoms of an unexplained malfunction of the immune system. His older sister, at the time a toddler, had previously died of the same syndrome. Dr. Polina Stepensky, head of the Hadassah’s pediatric hemato-oncology and bone marrow transplantation department told reporters that “the Palestinian hospital could not diagnose the disease, and we didn’t know at first what it was either. When the symptoms appeared in the sister the doctors tried various treatments but they didn’t know exactly what the diagnosis was and it didn’t help and she died.”
When the little boy started exhibiting the same preliminary symptoms, “his mother was the first to understand that it was apparently the same illness and it was liable to end the same way,” Stepensky said. The mother abandoned the idea of going to the Palestinian hospital once again and sought out help at the Israeli hospital.
According to a report by Haaretz, in order to diagnose the disease Dr.Stepensky together with Professor Orly Elpeleg of Hadassah’s genetic research department utilized a new technique, by which they created a genetic sequence of both the boy and his family. Upon carrying out the sequence they discovered that the family possessed a damaged gene that resulted in the deficiency of the protein TPP2. This isolation of the problem was a big step in solving the mystery around the boy’s condition ,for even though the disease destroys red blood cells, normal blood tests won’t detect it.
The process was made simpler by the Human Genome Project which was completed in 2006. The project, together with the technological developments that followed, allowed for a relatively easy and inexpensive genetic sequencing for the family. “We actually discovered a new mechanism of the immune system, a previously unknown path that leads to premature aging of the immune system, which both allowed us to diagnose this disease and will also help us better understand the whole system,” Stepensky said.
Two years ago, doctors decided that the most effective treatment would be a stem-cell transplant to rejuvenate the boy’s immune system. The boy who was by then aged 12 had been treated for years with immunosuppressive drugs. In 2014 he received a transplant from the bone marrow of his healthy seven-year-old sister and now seems to have recovered.