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Article

Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene.

Clinical and experimental dermatology - 1 Jun 2015

Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E

Abstract excerpt

BACKGROUND: Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare hereditary, autosomal dominant, auto-inflammatory disease caused by mutations in the PSTPIP1 gene, which encodes proline-serine-threonine phosphatase interacting protein 1. The fact that PSTPIP1 is involved in immune regulation provides a rationale for treatment of this rare disease with interleukin (IL)-1 signalling...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25683018
DOI: 10.1111/ced.12585

Genes

PSTPIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene.PMID 25683018Read ↗

Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosumSemantic proximity Read ↗

Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene.Semantic proximity Read ↗

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.Semantic proximity Read ↗

Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).Semantic proximity Read ↗

Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.Semantic proximity Read ↗

Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.Semantic proximity Read ↗

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.Semantic proximity Read ↗

Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.Semantic proximity Read ↗

Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.Semantic proximity Read ↗

Excess Serum Interleukin-18 Distinguishes Patients with Pathogenic Mutations in <i>PSTPIP1</i>Semantic proximity Read ↗

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A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndromeSemantic proximity Read ↗

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