Associated Papers
Progressive increase of serum zinc level in a Pediatric patient with PSTPIP1- p.N236K mutation.
Takahashi C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.
Dupré L et al.
Nature Reviews. Immunology, 2025
PAPASH Syndrome with a Pathogenic PSTPIP1 p.(Ala230Thr) Variant: A Case Report of Therapeutic Complexity.
Tikka M et al.
Acta Dermato-venereologica, 2025
[Genetic diagnostics in fever syndromes].
Gebhardt C et al.
Zeitschrift Fur Rheumatologie, 2025
Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.
Oprea Y et al.
American Journal of Clinical Dermatology, 2024
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Lee W et al.
Annals of the Rheumatic Diseases, 2024
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.
Maronese CA et al.
Dermatologic Clinics, 2024
Clinical and genetic analysis of the first Mexican patient with a diagnosis of pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.
Fuentes-Nava AG et al.
Clinical and Experimental Dermatology, 2024
Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways.
Satoh TK
The Journal of Dermatology, 2024
Experimental models in Familial Mediterranean Fever (FMF): Insights into pathophysiology and therapeutic strategies.
Mezher N et al.
Experimental and Molecular Pathology, 2024
Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
Özkılınç Önen M et al.
Rheumatology (oxford, England), 2023
Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene.
Zhao R et al.
Jaad Case Reports, 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?
Whiteside BG et al.
Pediatric Rheumatology Online Journal, 2022
PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.
Manso JA et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
Stone DL et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.
Miyazawa H et al.
Frontiers in Immunology, 2022
The PRY/SPRY domain of pyrin/TRIM20 interacts with β2-microglobulin to promote inflammasome formation.
Samukawa S et al.
Scientific Reports, 2021
Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.
Zhang D et al.
Pediatric Rheumatology Online Journal, 2021
PAMI syndrome: A rare cause that can be easily misdiagnosed.
Xu XM et al.
American Journal of Medical Genetics. Part A, 2021
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.
Lu LY et al.
World Journal of Clinical Cases, 2021
HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.
Laberko A et al.
The Journal of Allergy and Clinical Immunology, 2021
A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1.
Kotzerke M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
Boursier G et al.
The Journal of Investigative Dermatology, 2021
Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.
Huang X et al.
The Journal of Dermatology, 2021
Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.
Wang Y et al.
Frontiers in Immunology, 2021
Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblastic leukemia.
Gowin E et al.
Central-european Journal of Immunology, 2021
Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil.
Fernandes SJ et al.
Case Reports in Immunology, 2021
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y et al.
Clinical Chemistry, 2020
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Wang W et al.
Frontiers in Immunology, 2020
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
Maggio MC et al.
Italian Journal of Pediatrics, 2019
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan İ et al.
Rheumatology International, 2019
[PAPA syndrome with Crohn's disease and primary sclerosing cholangitis/autoimmune hepatitis overlap syndrome].
Schäffler H et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
The Pyrin Inflammasome in Health and Disease.
Schnappauf O et al.
Frontiers in Immunology, 2019
Novel PSTPIP1 gene mutation in pyoderma gangrenosum, acne and suppurative hidradenitis syndrome.
Saito N et al.
The Journal of Dermatology, 2018
Function and mechanism of the pyrin inflammasome.
Heilig R et al.
European Journal of Immunology, 2018
Genetic architecture of acne vulgaris.
Lichtenberger R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Familial Mediterranean fever patients with hidradenitis suppurativa.
Vural S et al.
International Journal of Dermatology, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.
Marzano AV et al.
The British Journal of Dermatology, 2016
Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.
Holzinger D et al.
Current Opinion in Rheumatology, 2016
Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.
Omenetti A et al.
Rheumatology (oxford, England), 2016
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
Holzinger D et al.
The Journal of Allergy and Clinical Immunology, 2015
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.
Lindwall E et al.
Seminars in Arthritis and Rheumatism, 2015