Associated Papers
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
Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.
Morales-Heil DJ et al.
Hgg Advances, 2023
Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling.
de Oliveira ASLE et al.
Biomolecules, 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
Clinical and Genetic Features of Chinese Adult Patients With Chronic Non-Bacterial Osteomyelitis: A Single Center Report.
Zhao M 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
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
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).
Marzano AV et al.
The British Journal of Dermatology, 2017
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.
Nakayama M et al.
Biochemistry and Biophysics Reports, 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
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M et al.
Annals of the Rheumatic Diseases, 2016
The genetics of pyoderma gangrenosum and implications for treatment: a systematic review.
DeFilippis EM et al.
The British Journal of Dermatology, 2015
Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.
Marzano AV et al.
Medicine, 2014
The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases.
Federici S et al.
Frontiers in Immunology, 2013
Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.
Geusau A et al.
Jama Dermatology, 2013
Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum.
Nesterovitch AB et al.
Clinical and Experimental Dermatology, 2011