Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Autoinflammatory syndrome
Early-onset pulmonary and cutaneous vasculitis
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.
This condition has no sub-types.