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Article

A protracted diagnostic journey of pediatric PAPA syndrome and subsequent response to tofacitinib therapy: a case report and literature review.

Frontiers in immunology - 1 Jan 2026

He Shuien, Deng Hao, Yang Jinghua, Jiang Wenwen

Abstract excerpt

PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) is a rare autosomal dominant autoinflammatory disorder caused by mutations in the PSTPIP1 gene. In pediatric patients, arthritis often precedes cutaneous manifestations by several years, leading to frequent misdiagnosis as septic arthritis. Treatment is challenging, with IL-1 inhibitors being the most pathophysiology-based first-line...

Read the complete abstract on PubMed

Topics

Humans
Piperidines
Male
Child
Arthritis, Infectious
Pyoderma Gangrenosum
Pyrimidines

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adaptor Proteins, Signal Transducing

Treatment Outcome

Cytoskeletal Proteins

Mutation

Protein Kinase Inhibitors

Acne Vulgaris

Source

Open in PubMed Open full text

Identifiers

PMID: 42682796
DOI: 10.3389/fimmu.2026.1870454
PMCID: PMC13529982

Genes

PSTPIP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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