The expanding spectrum of clinical phenotypes associated with PSTPIP 1 mutations: from PAPA to PAMI syndrome and beyond-Reference-Cited by-同舟云学术

The expanding spectrum of clinical phenotypes associated with PSTPIP 1 mutations: from PAPA to PAMI syndrome and beyond

Published:2018-02-23 Issue:4 Volume:178 Page:982-983
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Klötgen H.‐W.¹^ORCID,Beltraminelli H.¹,Yawalkar N.¹,Gijn M.E.²,Holzinger D.³,Borradori L.¹

Affiliation:

1. Department of Dermatology University Hospital Bern Freiburgstrasse 10 Bern 3010 Switzerland

2. Division of Biomedical Genetics, Genetica University Medical Center Utrecht Utrecht 3508AB the Netherlands

3. Department of Paediatric Rheumatology and Immunology University Children's Hospital and Institute of Immunology University Hospital Muenster 48149 Germany

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.16136

Reference8 articles.

1. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

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

3. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases

4. Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)?a new autoinflammatory syndrome distinct from PAPA syndrome

5. Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated With a Novel Mutation of the PSTPIP1 Gene

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature;Pediatric Dermatology;2024-07-05

2. PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: a case of relapsed episodes of gastrointestinal inflammation and literature review;Journal of Clinical Pathology;2024-05-15

3. Efficacy and safety of anakinra and canakinumab in PSTPIP1-associated inflammatory diseases: a comprehensive scoping review;Frontiers in Immunology;2024-01-08

4. Biological and clinical roles of IL-18 in inflammatory diseases;Nature Reviews Rheumatology;2023-12-11

5. PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review;Genes;2023-08-19