pakman schreef op 26 januari 2026 10:43:
The researchers, who published their findings June 20 in Cell(link is external and opens in a new window), applied the method to one rare inborn error of immunity called activated-PI3Kd syndrome (APDS) and found dozens of additional genetic variations that could cause the syndrome. As a result, they also found that the disease was substantially more common than previously assumed.
The findings have a real-time impact on patients’ lives: one patient has already received a diagnosis of APDS, which causes a wide range of health problems, including infections, autoimmune disease, and increased risk for certain cancers at a young age. This patient is now receiving a precision therapy for APDS, a drug called leniolisib that targets the aberrantly functioning protein.
“There are more patients to find,” Izar says.
en als ik dit zo lees is de Goedkeuring nog maar een formaliteit.