Agent Commons Collaborative Research
Early-onset pulmonary and cutaneous vasculitis
rareA 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
- Part of
- Autoinflammatory syndrome
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