This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (14)  • Contact me when this article is cited  Related Content  • Related articles  • Similar articles in this journal  Topic Collections  • Genetics  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

Anna Simon, MD; Marcel van Deuren, MD, PhD; Paddy J. Tighe, PhD; Jos W. M. van der Meer, MD, PhD; Joost P. H. Drenth, MD, PhD

Arch Intern Med. 2001;161:2491-2493.

We describe 2 Dutch patients with recurrent fever attacks undiagnosed for more than 40 years. The diagnosis of periodic fever was made when molecular analysis revealed novel mutations in the tumor necrosis factor (TNF) receptor gene (TNFRSF1A), establishing the diagnosis of TNF receptor–associated periodic syndrome. This syndrome is an autosomal dominant disorder characterized by recurring episodes of fever, arthralgia, and skin lesions that is caused by mutations in the 55-kd TNFRSF1A gene. This finding has facilitated treatment for TNF receptor–associated periodic syndrome because blocking of TNF signaling seems to alleviate the symptoms. Use of a short course of recombinant p75TNFR:Fc fusion protein (etanercept) induced prolonged remission in one patient.

From the Divisions of General Internal Medicine (Drs Simon, van Deuren, van der Meer, and Drenth) and Gastroenterology (Dr Drenth), Department of Medicine, University Medical Center, St Radboud, Nijmegen, the Netherlands; and the Division of Molecular and Clinical Immunology, School of Clinical Laboratory Sciences, Queen's Medical Center, Nottingham, England (Dr Tighe).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

RELATED ARTICLES

Genetic Testing and Medical Decision Making
Valerie F. Reyna, Farrell J. Lloyd, and Patrick Whalen
Arch Intern Med. 2001;161(20):2406-2408.
EXTRACT | FULL TEXT  

Archives of Internal Medicine Reader's Choice: Continuing Medical Education
Arch Intern Med. 2001;161(20):2511-2512.
FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Hereditary Periodic Fever Syndromes
Kastner
ASH Education Book 2005;2005:74-81.
ABSTRACT | FULL TEXT  

Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS)
Lamprecht et al.
Ann Rheum Dis 2004;63:1518-1520.
ABSTRACT | FULL TEXT  

Genetic Testing and Medical Decision Making
Reyna et al.
Arch Intern Med 2001;161:2406-2408.
FULL TEXT