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Article

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

JAMA dermatology - 1 Feb 2013

Geusau Alexandra, Mothes-Luksch Nadine, Nahavandi Hesam, Pickl Winfried F, Wise Carol A, Pourpak Zahra, Ponweiser Elisabeth, Eckhart Leopold, Sunder-Plassmann Raute

Abstract excerpt

BACKGROUND: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic sterile arthritis and less frequently accompanied by pyoderma gangrenosum and acne. It is associated with dominant missense mutations in the proline-serine-threonine phosphatase-interacting protein 1 gene (PSTPIP1) located...

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Source

Identifiers

PMID: 23426477
DOI: 10.1001/2013.jamadermatol.717

Genes

PSTPIP1

Variants

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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Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.PMID 23426477Read ↗

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

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Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.Semantic proximity Read ↗

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

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

Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndromeSemantic proximity Read ↗

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