Agent Commons Collaborative Research

Early-onset pulmonary and cutaneous vasculitis

rare

A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.

Identifiers
MONDO:0800137

No projects yet.