Associated Papers
Analysis of genes involved in immune response in children with HLH - case series.
Gowin E et al.
Pediatric Rheumatology Online Journal, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters.
Sağun F et al.
Bmc Immunology, 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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Genetic factors associated with hidradenitis suppurativa, a literature review.
Eble SM et al.
International Journal of Women's 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
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.
Morales-Heil DJ et al.
Hgg Advances, 2023
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Molecular analysis of inflammatory diseases.
Almughrbi AH et al.
Experimental Dermatology, 2022
Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
Stone DL et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.
Miyazawa H et al.
Frontiers in Immunology, 2022
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 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
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
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 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
PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome.
Calderón-Castrat X et al.
The British Journal of Dermatology, 2016
The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages.
Starnes TW et al.
Blood, 2014