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
[Genetic diagnostics in fever syndromes].
Gebhardt C et al.
Zeitschrift Fur Rheumatologie, 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
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
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
Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.
Morales-Heil DJ et al.
Hgg Advances, 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
Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.
Miyazawa H et al.
Frontiers in Immunology, 2022
Strong inflammatory signatures in the neutrophils of PAMI syndrome.
Zheng W 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
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
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 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
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
Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.
Dai P et al.
Journal of Clinical Immunology, 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
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
The genetics of pyoderma gangrenosum and implications for treatment: a systematic review.
DeFilippis EM et al.
The British Journal of Dermatology, 2015
Immunological function of familial Mediterranean fever disease protein Pyrin.
Yang J et al.
Science China. Life Sciences, 2014
Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.
Marzano AV et al.
Medicine, 2014
Proline-serine-threonine phosphatase interacting protein 1 inhibition of T-cell receptor signaling depends on its SH3 domain.
Marcos T et al.
The Febs Journal, 2014
Pyoderma gangrenosum: pathogenetic oriented treatment approaches.
Wollina U et al.
Wiener Medizinische Wochenschrift (1946), 2014
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.
Ozen S et al.
Nature Reviews. Rheumatology, 2014
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Almeida de Jesus A et al.
Clinical Immunology (orlando, Fla.), 2013