Clinical and Genetic Features of Patients WithTNFRSF1AVariants in Japan: Findings of a Nationwide Survey-Reference-Cited by-同舟云学术

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Clinical and Genetic Features of Patients WithTNFRSF1AVariants in Japan: Findings of a Nationwide Survey

Published:2016-10-27 Issue:11 Volume:68 Page:2760-2771
ISSN:2326-5191
Container-title:Arthritis & Rheumatology
language:en
Short-container-title:Arthritis & Rheumatology

Author:

Ueda Naoyasu¹,Ida Hiroaki²,Washio Masakazu³,Miyahara Hisaaki⁴,Tokunaga Shoji⁵,Tanaka Fumiko⁶,Takahashi Hiroki⁷,Kusuhara Koichi⁸,Ohmura Koichiro⁹,Nakayama Manabu¹⁰,Ohara Osamu¹⁰,Nishikomori Ryuta⁹,Minota Seiji¹¹,Takei Shuji¹²,Fujii Takao⁹,Ishigatsubo Yoshiaki¹³,Tsukamoto Hiroshi¹,Tahira Tomoko¹,Horiuchi Takahiko¹⁴

Affiliation:

1. Kyushu University; Fukuoka Japan

2. Kurume University School of Medicine; Kurume Japan

3. St. Mary's College; Kurume Japan

4. National Hospital Organization Kyushu Medical Center; Fukuoka Japan

5. Kyushu University Hospital; Fukuoka Japan

6. National Hospital Organization Ureshino Medical Center; Ureshino Japan

7. Sapporo Medical University School of Medicine; Sapporo Japan

8. University of Occupational and Environmental Health; Kitakyushu Japan

9. Kyoto University Graduate School of Medicine; Kyoto Japan

10. Kazusa DNA Research Institute; Kisarazu Japan

11. Jichi Medical University; Shimono Japan

12. Kagoshima University Graduate School of Health Science; Kagoshima Japan

13. Yokohama City University Graduate School of Medicine; Yokohama Japan

14. Kyushu University Beppu Hospital; Beppu Japan

Publisher

Wiley

Subject

Immunology,Rheumatology,Immunology and Allergy

Reference46 articles.

1. Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes;McDermott;Cell,1999

2. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder;Hull;Medicine (Baltimore),2002

3. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease;Masters;Annu Rev Immunol,2009

4. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome;Simon;Proc Natl Acad Sci U S A,2010

5. The Infevers autoinflammatory mutation online registry: update with new genes and functions;Milhavet;Hum Mutat,2008

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2. Tumor necrosis factor receptor-associated cycle syndrome: a case report and literature review;Frontiers in Pediatrics;2023-12-13

3. TRAPS mutations in Tnfrsf1a decrease the responsiveness to TNFα via reduced cell surface expression of TNFR1;Frontiers in Immunology;2022-07-22

4. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist;Annals of the Rheumatic Diseases;2022-05-27

5. The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin‐1 Mediated Autoinflammatory Diseases: Cryopyrin‐Associated Periodic Syndromes, Tumour Necrosis Factor Receptor‐Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin‐1 Receptor Antagonist;Arthritis & Rheumatology;2022-05-27

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