Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

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

  • Deborah L. StoneEmail author
  • Daniel L. Kastner
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_128-1

Synonyms

Definition

Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoinflammatory condition presenting with inflammatory joint and skin disease that is caused by autosomal dominant, gain-of-function mutations in PSTPIP1 (MIM #604416).

Introduction

PAPA syndrome was first described in a large family in 1997 (Lindor et al. 1997). The “streaky leukocyte syndrome” described in a teenage boy in 1975 was later confirmed by genetic testing to be a case of PAPA syndrome (Jacobs and Goetzl 1975).

Genetics

Familial PAPA syndrome is inherited in an autosomal dominant manner with phenotypic variability. De novo mutations are the cause of PAPA syndrome in other individuals. PAPA syndrome results from mutations in PSTPIP1 (proline-serine-threonine phosphatase-interacting protein 1), also known as CD2-binding...

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References

  1. Holzinger D Roth J. Alarming consequences – autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1. Curr Opin Rheumatol. 2016;28(5):550–559. PubMed: 27464597.Google Scholar
  2. Jacobs JC, Goetzl EJ. ‘Streaking leukocyte factor,’ arthritis and pyoderma gangrenosum, Pediatrics. 1975;56:570–578. PubMed: 1165961.Google Scholar
  3. Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum and acne: PAPA syndrome. Mayo Clin Proc. 1997; 72:611–615. PubMed: 9212761.Google Scholar
  4. Omenetti A, Carta S, Caorsi R, Finetti M, Marotto D, Lattanzi B et al. Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome Rheumatology (Oxford). 2016; 55(7):1325–1335. PubMed: 26989109.Google Scholar
  5. Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003;100:13501–13506. PubMed: 14595024.Google Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.National Human Genome Research Institute, National Institutes of HealthBethesdaUSA

Section editors and affiliations

  • Raphaela Goldbach-Mansky
    • 1
  1. 1.NIAID, Translational Autoinflammatory Disease StudiesNational Institutes of Health Clinical CenterBethesdaUSA