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early-onset pulmonary and cutaneous vasculitis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset pulmonary and cutaneous vasculitis

MONDO:0800137

Overview

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.

ResearchLimited published research (8 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for early-onset pulmonary and cutaneous vasculitis.

8 publications have been identified in PubMed for early-onset pulmonary and cutaneous vasculitis. Research spans Case Report / Case Series (88%) and Other (13%).

Recent Publications

Wu SF (2026). [PMID: 41691973](https://pubmed.ncbi.nlm.nih.gov/41691973/). *J Chromatogr B Analyt Technol Biomed Life Sci*. [Case Report / Case Series]
Iqbal S (2025). [PMID: 40458680](https://pubmed.ncbi.nlm.nih.gov/40458680/). *J Allergy Clin Immunol Glob*. [Case Report / Case Series]
Rizzo M (2025). [PMID: 41158460](https://pubmed.ncbi.nlm.nih.gov/41158460/). *Front Med (Lausanne)*. [Case Report / Case Series]
Berdeli A (2025). [PMID: 41382121](https://pubmed.ncbi.nlm.nih.gov/41382121/). *Pediatr Rheumatol Online J*. [Case Report / Case Series]
Bastos JM (2025). [PMID: 39925505](https://pubmed.ncbi.nlm.nih.gov/39925505/). *Cureus*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 2:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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early-onset pulmonary and cutaneous vasculitis

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team