Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.
Purpose Of Review: To give an overview about the expanding spectrum of autoinflammatory diseases due to mutations in proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) and new insights into their pathogenesis.Recent Findings: In addition to classical pyogenic sterile arthritis, pyo...
| Publicado en: | Current Opinion in Rheumatology Vol. 28; no. 5; pp. 550 - 560 |
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| Autores principales: | , |
| Formato: | review Journal Article |
| Publicado: |
Lippincott Williams & Wilkins
Sep2016
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=117137046&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 117137046 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10408711 IR0 jtl: Current Opinion in Rheumatology issn: 10408711 maglogo: N pubinfo: dt: Sep2016 vid: 28 iid: 5 pid: 433 pub: Lippincott Williams & Wilkins place: Baltimore, Maryland artinfo: ui: 117137046 117137046 NLM27464597 117137046 10.1097/BOR.0000000000000314 NLM27464597 117137046 ppf: 550 ppct: 10 formats: tig: atl: Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1. aug: au: Holzinger, Dirk Roth, Johannes affil: Department of Paediatric Rheumatology and Immunology, University Children's Hospital sug: subj: Arthritis, Infectious Immunology Acne Vulgaris Immunology Carrier Proteins Immunology Pyoderma Gangrenosum Immunology Monocytes Immunology Hereditary Autoinflammatory Diseases Immunology Interleukin 1 Immunology Immunosuppressive Agents Therapeutic Use Tumor Necrosis Factor Antagonists and Inhibitors Glucocorticoids Therapeutic Use Cyclosporine Therapeutic Use Cytoskeletal Proteins Pyoderma Gangrenosum Drug Therapy Immunity Immunology Hereditary Autoinflammatory Diseases Drug Therapy Arthritis, Infectious Prednisolone Therapeutic Use Calcium Binding Proteins Immunology Acne Vulgaris Mutation Proteins Therapeutic Use Acne Vulgaris Drug Therapy Arthritis, Infectious Drug Therapy Pyoderma Gangrenosum Syndrome Hereditary Autoinflammatory Diseases Phenotype Carrier Proteins Antibodies, Monoclonal Therapeutic Use Arthritis Impact Measurement Scales Impact of Events Scale Questionnaires Scales ab: Purpose Of Review: To give an overview about the expanding spectrum of autoinflammatory diseases due to mutations in proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) and new insights into their pathogenesis.Recent Findings: In addition to classical pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome has been described as a distinct clinical phenotype of PSTPIP1-associated inflammatory diseases (PAID) and other entities are emerging. In addition to dysregulation of IL-1ß release from activated PAPA monocytes that requires NLR family, pyrin domain containing 3 (NLRP3), PSTPIP1 mutations have an general impact on cellular dynamics of cells of the innate immune system. In addition, overwhelming expression and release of the alarmins myeloid-related protein (MRP) 8 and 14 by activated phagocytes and keratinocytes, which promote innate immune mechanisms in a Toll like receptor (TLR) 4-dependent manner, are a characteristic feature of these diseases and form a positive feed-back mechanism with IL-1ß.Summary: Autoinflammatory diseases due to PSTPIP1 mutations are not restricted to the classical PAPA phenotype but might present with other distinct clinical features. MRP8/14 serum levels are a hallmark of PAPA and PAMI and can be used as screening tool to initiate targeted genetic testing in suspected cases. The feedback mechanism of IL-1ß and MRP-alarmin release may offer novel targets for future therapeutic approaches. pubtype: Academic Journal doctype: review Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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