Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Clinical and experimental rheumatology - 1 Jan 2000

Fathalla Basil M, Al-Wahadneh Adel M, Al-Mutawa Mariam, Kambouris Marios, El-Shanti Hatem

Abstract excerpt

Autoinflammatory disorders are a group of Mendelian disorders characterized by seemingly unprovoked inflammatory bouts without high-titer autoantibodies or antigen-specific T-cells and are probably due to defects in the innate immunity. We here report on a 4-year-old Arabic boy with the clinical presentation of an autoinflammatory disorder, namely Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) syndrome....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acne Vulgaris
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anti-Inflammatory Agents

Share to Arthritis, Infectious

Share to Cytoskeletal Proteins

Share to Jordan

Share to Mutation, Missense

Source

Identifiers

PMID: 24960411

Genes

PSTPIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.PMID 24960411Read ↗

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 ↗

Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in 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 ↗

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

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

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

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

Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways.Semantic proximity Read ↗

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

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

PAMI syndrome: A rare cause that can be easily misdiagnosed.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.