• Type of mutations
Bi-allelic CSF1RMutation
• Suspected pathophysiologic mechanism
CSF1Rworks like a cellular control switch that helps regulate important immune cells. When its matching signal molecule (CSF1) attaches to it, two CSF1R proteins join together and activate six specific spots on their surface. This turns on a communication network inside the cell that controls the growth, movement, and specialized functions of certain white blood cells - particularly the brain's maintenance crew (microglia) and bone-remodeling cells (osteoclasts). Essentially, it's a key mechanism that keeps these cells functioning properly to maintain healthy brain tissue and normal bone structure. If the CSF1Rgene becomes mutated, it will directly impair the function of microglia (the brain's maintenance crew) and osteoclasts (bone-remodeling cells).
CSF1R BANDDOS