Pope syndrome ... (recurrent arthritis Family) (PAPA Syndrome, Familial recurrent arthritis) - Gen PSTPIP1.            

Pope syndrome is a rare genetic disorder that primarily affects the skin and joint tissues.  

The first signs of the disease usually appear before age 10, although there have been some cases slightly later age. One of the most common features of the syndrome includes pyogenic arthritis which mainly affects large joints and only occasional small joints and occurs recurrently. This arthritis is characterized by the presence of polymorphonuclear infiltrates intense level of the synovial tissue and by the presence of a sterile synovial fluid and purulent due to accumulation , and local death of many polymorphonuclear leukocytes. Other features of the syndrome include pyoderma gangrenosum, generally located in the lower extremities and usually appears after minor trauma, severe cystic acne, sterile abscess formation and chronic cystic lesions in the injection, both intradermal and parenteral.

This process is due to mutations in the gene PSTPIP1, located on the long arm of chromosome 15 (15q24.3). This gene encodes a protein that interacts with the organization and regulation of the actin cytoskeleton. Also it has a role in innate immunity and inflammatory response.

It is thought that mutations in the gene PSTPIP1 difficult to maintain an appropriate inflammatory response. These mutations increase binding of the protein pyrin PSTPIP1, interfering with the inhibitory effect of pyrene in the production of interleukin-1 activates (IL-1) (23). These changes result in the accumulation of sterile pyogenic cells with abundant neutrophils within the affected joints, resulting in the eventual destruction of the joints, muscles and skin.

This disease is an autosomal dominant inheritance, which means that a copy of the altered gene in each cell is sufficient to cause disease.  

Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome Pope, by complete PCR amplification of the exons of the gene PSTPIP1, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).