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
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
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
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
Jafarpour S et al.
Journal of Neurology, 2022
PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.
Manso JA et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.
Marzano AV et al.
Dermatology (basel, Switzerland), 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
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
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
Genetic architecture of acne vulgaris.
Lichtenberger R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).
Marzano AV et al.
The British Journal of Dermatology, 2017
Familial Mediterranean fever patients with hidradenitis suppurativa.
Vural S et al.
International Journal of Dermatology, 2017
[Severe acne in autoinflammatory diseases].
Faleri S et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 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
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
Successful treatment of PASH syndrome with infliximab, cyclosporine and dapsone.
Staub J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
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
PASH syndrome associated with osteopoikilosis.
Gracia-Cazaña T et al.
International Journal of Dermatology, 2015
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
PASH, PAPASH, PsAPASH, and PASS: The autoinflammatory syndromes of hidradenitis suppurativa.
Garcovich S et al.
Clinics in Dermatology, 0
Hidradenitis suppurativa in autoinflammatory syndromes.
Mokos ZB et al.
Clinics in Dermatology, 0