Chilblain Lupus 1 (CHBL1)

Chilblain Lupus 1, also known as chilblain lupus, is related to familial chilblain lupus and singleton-merten dysplasia. An important gene associated with Chilblain Lupus 1 is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include skin and lymph node, and related phenotypes are hyperkeratosis and skin ulcer