ArticleArthritis and rheumatism2012
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).
Article in Arthritis and rheumatism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 3 syntheses or guidelines pooled it, 182 citations in OpenAlex.
- Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.American journal of clinical dermatology · 2024Pooled it
- PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.Genes · 2023Pooled it
- Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.Frontiers in immunology · 2021Pooled it
- Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.Nature immunology · 2026Article
- A protracted diagnostic journey of pediatric PAPA syndrome and subsequent response to tofacitinib therapy: a case report and literature review.Frontiers in immunology · 2026Review
- Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways.The Journal of dermatology · 2024Review
- Rare missense variants in the SH3 domain ofHGG advances · 2023Article
- Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene.JAAD case reports · 2023Article
- Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity.Frontiers in pediatrics · 2023Review
- Biologic Therapies for the Management of Cutaneous Findings in Genodermatoses: A Review.American journal of clinical dermatology · 2022Review
- PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype.Journal of clinical immunology · 2022Article
- Oral tacrolimus for ocular involvement in pediatric neutrophilic dermatoses.JAAD case reports · 2022Article
- Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.Arthritis & rheumatology (Hoboken, N.J.) · 2022Article
- Acne Syndromes and Mosaicism.Biomedicines · 2021Review
- Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.World journal of clinical cases · 2021Article
- Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.Nature reviews. Rheumatology · 2021Review
- Chronic Nonbacterial Osteomyelitis in Children.Children (Basel, Switzerland) · 2021Review
- Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (Central-European journal of immunology · 2021Article
- Pyoderma gangrenosum: From historical perspectives to emerging investigations.International wound journal · 2020Review
- [Clinical symptoms of autoinflammatory diseases].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2020Review
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveTo describe the genotypes, phenotypes, immunophenotypes, and treatments of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), a rare autoinflammatory disease, in 5 patients.
methodsClinical information was gathered from medical records and through interviews with 5 patients from 4 kindreds. PSTPIP1 (CD2BP1) exon 10 and exon 11 sequencing was performed in each patient. Neutrophil granule content and cytokine levels were determined in plasma and stimulated peripheral blood mononuclear cells (PBMCs) from patients and controls.
resultsWe identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K. Disease penetrance was incomplete, with variable expressivity. The cutaneous manifestations included pathergy, cystic acne, and pyoderma gangrenosum. Interleukin-1β (IL-1β) and circulating neutrophil granule enzyme levels were markedly elevated in patients compared to those in controls. PBMC stimulation studies demonstrated impaired production of IL-10 and enhanced production of granulocyte-macrophage colony-stimulating factor. Good resolution of pyoderma gangrenosum was achieved in 3 patients with tumor necrosis factor α (TNFα) blockade treatment.
conclusionThis analysis of 5 patients demonstrates that mutations in PSTPIP1 are incompletely penetrant and variably expressed in the PAPA syndrome. Neutrophil granule proteins are markedly elevated ex vivo and in the plasma, and elevated levels might be compatible with a diagnosis of PAPA syndrome. TNFα blockade appears to be effective in treating the cutaneous manifestations of PAPA syndrome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.