Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.
Background: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic sterile arthritis and less frequently accompanied by pyoderma gangrenosum and acne. It is associated with do...
| Publicado en: | JAMA Dermatology Vol. 149; no. 2; pp. 209 - 216 |
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| Autores principales: | , , , , , , , , |
| Formato: | case study Journal Article |
| Publicado: |
American Medical Association
Feb2013
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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=104238260&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104238260 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 21686068 FTFQ jtl: JAMA Dermatology issn: 21686068 maglogo: N pubinfo: dt: Feb2013 vid: 149 iid: 2 pid: 30 pub: American Medical Association place: Chicago, Illinois artinfo: ui: 104238260 NLM23426477 2012017412 10.1001/2013.jamadermatol.717 NLM23426477 104238260 ppf: 209 ppct: 7 formats: tig: atl: Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment. aug: au: Geusau, Alexandra Mothes-Luksch, Nadine Nahavandi, Hesam Pickl, Winfried F Wise, Carol A Pourpak, Zahra Ponweiser, Elisabeth Eckhart, Leopold Sunder-Plassmann, Raute affil: Division of Immunology, Allergy, and Infectious Diseases, Department of Dermatology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria. alexandra.geusau@meduniwien.ac.at sug: subj: Acne Vulgaris Drug Therapy Carrier Proteins Antibodies, Monoclonal Therapeutic Use Arthritis, Infectious Drug Therapy Cytoskeletal Proteins Interleukin 1 Antagonists and Inhibitors Pyoderma Gangrenosum Drug Therapy Acne Vulgaris Acne Vulgaris Pathology Amino Acids Arthritis, Infectious Arthritis, Infectious Pathology Male Mutation Pyoderma Gangrenosum Pyoderma Gangrenosum Pathology Disease Remission Sequence Analysis Syndrome Treatment Outcomes Young Adult Male ab: Background: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic sterile arthritis and less frequently accompanied by pyoderma gangrenosum and acne. It is associated with dominant missense mutations in the proline-serine-threonine phosphatase-interacting protein 1 gene (PSTPIP1) located on chromosome 15. The patient was diagnosed as having features of a PAPA-like syndrome in which cutaneous manifestations, such as pyoderma gangrenosum and acne fulminans, predominated.Observations: Sequencing of the PSTPIP1 gene was performed in the patient and his extended family. The patient's DNA analysis revealed a homozygous nucleotide exchange c.773G>C in the PSTPIP1 gene, leading to the substitution of glycine 258 by alanine (p.Gly258Ala), a previously reported heterozygous polymorphism. Heterozygous changes were identified in both of the patient's parents and in 7 other family members, all of whom were asymptomatic. The patient was treated with canakinumab, a human anti-interleukin 1β monoclonal antibody, which led to rapid remission of the symptoms.Conclusions: To our knowledge, this is the first reported case of the resolution of dermatological symptoms associated with a PAPA-like syndrome using canakinumab treatment. Further study of the p.Gly258Ala variant is warranted to determine whether this mutation has a role in causing an apparently recessive cutaneous syndrome resembling PAPA syndrome. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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