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PRF1

—Perforin 1

Chromosome: 10

Location: 10:70596401-70602788

OMIM: 170280

Ensembl: ENSG00000180644

Official·OMIM:170280 Official·ENSG00000180644

Encodes perforin cytolytic protein. Mutations cause familial hemophagocytic lymphohistiocytosis.

Treatment Roadmap — PRF1

Preclinical

Phase 1

Phase 2

2 trial

Phase 3

1 trial

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Familial Hemophagocytic Lymphohistiocytosis

Autosomal RecessivePrevalence: 1/50000immunologic

Official·OMIM:267700 Official·ORPHA540

Summary

Clinical Trial

Approved Therapy

Registered Variant