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

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Encyclopedia of Medical Immunology

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Synonyms

CD2-binding protein 1; CD2BP1; PAPA; Proline-serine-threonine phosphatase-interacting protein 1; PSTPIP1; Pyogenic arthritis, pyoderma gangrenosum, and acne

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

  • 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.

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  • Jacobs JC, Goetzl EJ. ‘Streaking leukocyte factor,’ arthritis and pyoderma gangrenosum, Pediatrics. 1975;56:570–578. PubMed: 1165961.

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  • 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.

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  • 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.

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  • 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.

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Author information

Authors and Affiliations

  1. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    Deborah L. Stone & Daniel L. Kastner

Authors
  1. Deborah L. Stone
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  2. Daniel L. Kastner
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Corresponding author

Correspondence to Deborah L. Stone .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. NIAID, Translational Autoinflammatory Disease Studies, National Institutes of Health Clinical Center, Bethesda, Maryland, USA

    Raphaela Goldbach-Mansky

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Stone, D.L., Kastner, D.L. (2019). Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_128-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_128-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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