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Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome

  • PSTPIP1
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome, is also known as Familial Recurrent Arthritis. It is a rare, autosomal dominant, auto-inflammatory disorder with recurrent, destructive pyogenic sterile arthritis, pyoderma gangrenosum and acne. PAPA syndrome is caused by mutations in the PSTPIP1 gene located on chromosome 15q24-q25.1, which are thought to result in dysfunction of the native immune response, thus causing perpetual low-level inflammation and spikes of trauma- or stress-induced acute inflammation.

Two gain-of-function mutations have been associated with PAPA syndrome to date, Ala230Thr and Glu250Gln. It is currently unknown what proportion of individuals with a clinical diagnosis of PAPA syndrome carry mutations in the PSTPIP1gene. The methods used by GeneDx, Inc. are expected to be >99% sensitive in detecting mutations in the PSTPIP1 gene that are identifiable by DNA sequencing, including the reported Ala230Thr and Glu250Gln mutations.

Using genomic DNA obtained from buccal (cheek) swabs or blood (5 ml in EDTA), PSTPIP1 testing is offered in 2 tiers. Tier 1 testing consists of bi-directional sequence analysis of coding exons 10 and 11, and their corresponding splice sites, where all published mutations have been identified to date. If negative, tier 2 analysis of the remainder of the coding sequence and splice junctions (exons 1-9 and 12-15) of the PSTPIP1 gene is provided. Mutation-specific diagnostic and prenatal testing is available once a disease-causing mutation has been defined in a family.

If interested in ordering testing for this gene as part of a comprehensive testing panel for periodic fever syndromes (including MEFV, TNFRSF1A, MVK, NLRP3 (CIAS1), ELANE (ELA2), PSTPIP1 and LPIN2), please click here.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Arthritis, PAPA, FRA, PG, PSTPIP1, immune, auto-immune, autoimmune, inflammation

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