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
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Diagnostic dilemma: sudden onset of multiple skin lesions in a patient with intestinal disease.
Dai C et al.
Gut, 2025
Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.
Oprea Y et al.
American Journal of Clinical Dermatology, 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
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
Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.
Wouters F et al.
Journal of Clinical Immunology, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
A very rare cause of pre-capillary pulmonary hypertension: The PAMI syndrome.
Iseppi M et al.
Pulmonary Circulation, 2023
PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.
Mejbri M et al.
Genes, 2023
Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.
Delplanque 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
Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022?
Vergneault H et al.
Immunology, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 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
PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype.
Cox F et al.
Journal of Clinical Immunology, 2022
Hematopoietic stem cell transplantation in systemic autoinflammatory diseases - the first one hundred transplanted patients.
Signa S et al.
Expert Review of Clinical Immunology, 2022
PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.
Manso JA et al.
Cellular and Molecular Life Sciences : Cmls, 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
Off-label use of canakinumab in pediatric rheumatology and rare diseases.
Del Giudice E et al.
Frontiers in Medicine, 2022
Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases.
Su G et al.
Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 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
Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.
Mendonça LO et al.
Pediatric Rheumatology Online Journal, 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
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Di Donato G et al.
International Journal of Molecular Sciences, 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
Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease.
Del Borrello G et al.
Pediatrics, 2021
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 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
Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature.
Borgia P et al.
Frontiers in Medicine, 2021
[Targeted therapy of pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome (PAPA): a case report and literature review].
Liang WL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
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
Periodic fever syndromes and the autoinflammatory diseases (AIDs).
Marino A et al.
Journal of Translational Autoimmunity, 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
Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.
Dai P et al.
Journal of Clinical Immunology, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.
Hashmi SK et al.
Pediatric Blood & Cancer, 2019
The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.
Klötgen HW et al.
The British Journal of Dermatology, 2018
Genetic architecture of acne vulgaris.
Lichtenberger R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
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