Discover Community Create You

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

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

Current opinion in rheumatology - 1 Sept 2016

Holzinger Dirk, Roth Johannes

Abstract excerpt

PURPOSE OF REVIEW: To give an overview about the expanding spectrum of autoinflammatory diseases due to mutations in proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) and new insights into their pathogenesis. RECENT FINDINGS: In addition to classical pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI)...

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 Arthritis, Infectious
Share to Cyclosporine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucocorticoids

Share to Hereditary Autoinflammatory Diseases

Share to Interleukin 1 Receptor Antagonist Protein

Share to Interleukin-1beta

Share to Prednisolone

Source

Identifiers

PMID: 27464597
DOI: 10.1097/BOR.0000000000000314

Genes

PSTPIP1
NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.PMID 27464597Read ↗

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

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.Semantic proximity Read ↗

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

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

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

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

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

Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins.Semantic 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 ↗

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

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

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