Scientists from the Karolinska Institute have identified the source of a serious cancer-like disease that affects children. The discovery will lead to the development of the first specific drugs for histiocytosis X. The study was published in the journal Science Immunology.
Langerhans cell histiocytosis (LCH, histiocytosis X) is a rare disease that mainly affects children and can be fatal in severe cases. In PCH, cells of the immune system, histiocytes, begin to divide uncontrollably, causing scarring of bone and lung tissue.
For decades, scientists have debated which immune cells mutate to cause PCH: dendritic cells or monocytes. Biologists have shown both theories to be close to reality in a new study. The scientists combined data from single cell sequencing and microscopy of tissues and cells from patients.
They found that the mutated LCH cells had characteristics similar to both monocytes and dendritic cells and had a relatively recently discovered dendritic cell type called dendritic cell type 3 (DC3).
The discovery will allow the development of targeted therapy for histiocytosis.