A novel pathogenic variant in PSTPIP1 highlights the diversity of PSTPIP1-associated disorders.
The article focuses on a novel variant of the phosphatase interacting protein 1 (PSTPIP1) gene, specifically the H234Q variant, which expands the understanding of PSTPIP1-associated disorders and suggests the potential efficacy of JAK inhibitor therapy. The case study details a 42-year-old Canadian...
| Publicado en: | Rheumatology Vol. 65; no. 1; pp. 1 - 6 |
|---|---|
| Autores principales: | , , , , , |
| Formato: | case study letter pictorial tables/charts Journal Article |
| Publicado: |
Oxford University Press / USA
Jan2026
|
| 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=191351412&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 191351412 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 14620324 DN9 jtl: Rheumatology issn: 14620324 maglogo: N pubinfo: dt: Jan2026 vid: 65 iid: 1 pid: 622 pub: Oxford University Press / USA artinfo: ui: 191351412 191351412 191351412 10.1093/rheumatology/keaf466 191351412 ppf: 1 ppct: 5 formats: tig: atl: A novel pathogenic variant in PSTPIP1 highlights the diversity of PSTPIP1-associated disorders. aug: au: Farajzadeh, Nastaran Triaille, Clément Monjarret, Blandine Lamothe, Simon Touzot, Fabien Cros, Guilhem affil: Department of Microbiology, Infectiology and Immunology, Université de Montréal, Montreal, QC, CanadaCentre de Recherche Azrieli du CHU Sainte Justine Montreal, Montreal, QC, Canada sug: subj: Hereditary Autoinflammatory Diseases Diagnosis Cytoskeletal Proteins Analysis Genetic Variation Gene Expression Phenotype Adult Male Physical Examination Hyperbilirubinemia Creatine Kinase Blood Thrombocytopenia Immunoglobulins Blood Erythema Hereditary Autoinflammatory Diseases Drug Therapy Antibodies, Monoclonal Therapeutic Use Flow Cytometry Pyoderma Gangrenosum Acne Vulgaris Granuloma Adult: 19-44 years Male ab: The article focuses on a novel variant of the phosphatase interacting protein 1 (PSTPIP1) gene, specifically the H234Q variant, which expands the understanding of PSTPIP1-associated disorders and suggests the potential efficacy of JAK inhibitor therapy. The case study details a 42-year-old Canadian patient with atypical symptoms of PSTPIP1-associated autoinflammatory disease, including recurrent fever, arthralgia, and granuloma annulare, linked to the H234Q variant. Genetic analysis indicated that this variant enhances inflammasome activation, leading to increased IL-1β secretion and pyroptosis. The patient's treatment with the JAK inhibitor tofacitinib resulted in significant clinical improvement, highlighting a promising therapeutic avenue for managing these complex disorders. pubtype: Academic Journal doctype: case study letter pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|