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Article

The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.

The British journal of dermatology - 1 Apr 2018

Klötgen H-W, Beltraminelli H, Yawalkar N, van Gijn M E, Holzinger D, Borradori L

Abstract excerpt

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Topics

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Share to Acne Vulgaris
Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29150835
DOI: 10.1111/bjd.16136

Genes

PSTPIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.PMID 29150835Read ↗

P02-006 - A novel PSTPIP1 mutation in PAPA syndromeSemantic proximity Read ↗

PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotypeSemantic proximity Read ↗

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

Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.Semantic proximity Read ↗

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

Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome.Semantic proximity Read ↗

P02-018 - PSTPIP1 gene mutations in periodic fever patientsSemantic 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 ↗

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

Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease.Semantic proximity Read ↗

Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.Semantic proximity Read ↗

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

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