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



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).


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).


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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© 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