Abstract | INTRODUCTION: METHOD: We conducted a literature search of PubMed using the following search terms: E250K mutation, PSTPIP1, and PAPA. RESULTS: CONCLUSION: With variation present between disease presentations from case to case, it is possible that the spectrum of PAPA syndrome is wider than currently thought. Further research is needed which may uncover an as-yet undiscovered genetic abnormality linking these interrelated diseases together.
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Authors | Elvira Lindwall, Shikha Singla, William E Davis, Robert J Quinet |
Journal | Seminars in arthritis and rheumatism
(Semin Arthritis Rheum)
Vol. 45
Issue 1
Pg. 91-3
(Aug 2015)
ISSN: 1532-866X [Electronic] United States |
PMID | 25845478
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2015 Elsevier Inc. All rights reserved. |
Chemical References |
- Adaptor Proteins, Signal Transducing
- Cytoskeletal Proteins
- PSTPIP1 protein, human
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Topics |
- Acne Vulgaris
(genetics)
- Adaptor Proteins, Signal Transducing
(genetics)
- Adult
- Arthritis, Infectious
(genetics)
- Cytoskeletal Proteins
(genetics)
- Humans
- Male
- Mutation
- Pyoderma Gangrenosum
(genetics)
- Syndrome
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