Molecule

DNASE1L3

Extracellular DNA clearance enzyme

Expression change
Lost (in familial HUVS)
Evidence level
established

Role in pathogenesis

DNASE1L3 is a secreted endonuclease that degrades extracellular DNA within apoptotic microparticles. Biallelic loss-of-function mutations cause familial HUVS/SLE by allowing undegraded chromatin to trigger autoantibody formation (anti-dsDNA, anti-C1q). This is the only known genetic cause of HUVS.