PAPA syndrome

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf autoimmune disease
rare disease
gptkbp:associatedWith skin ulcers
joint inflammation
recurrent sterile arthritis
gptkbp:category genetic diseases
autoinflammatory syndromes
rheumatologic diseases
gptkbp:firstDescribed 1997
gptkbp:frequency very rare
gptkbp:fullName Pyogenic Arthritis, Pyoderma gangrenosum, and Acne syndrome
https://www.w3.org/2000/01/rdf-schema#label PAPA syndrome
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith PSTPIP1 gene
gptkbp:OMIM 604416
gptkbp:onset childhood
gptkbp:symptom pyoderma gangrenosum
pyogenic arthritis
severe cystic acne
gptkbp:treatment immunosuppressive therapy
biologic agents
gptkbp:bfsParent gptkb:PSTAP
gptkbp:bfsLayer 7