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
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
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
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
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
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
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
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
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 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
Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature.
Borgia P et al.
Frontiers in Medicine, 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
Periodic fever syndromes and the autoinflammatory diseases (AIDs).
Marino A et al.
Journal of Translational Autoimmunity, 2020
Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.
Dai P et al.
Journal of Clinical Immunology, 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
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
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
A dermatologic perspective on autoinflammatory diseases.
Marzano AV et al.
Clinical and Experimental Rheumatology, 0
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature.
Tran MM et al.
Pediatric Dermatology, 0