نتایج جستجو برای: hereditary periodic fever syndromes

تعداد نتایج: 337589  

Journal: :Human molecular genetics 1998
M Centola I Aksentijevich D L Kastner

The hereditary periodic fever syndromes are a group of Mendelian disorders characterized by episodic fever and serosal or synovial inflammation. Familial Mediterranean fever (FMF) and the hyperimmunoglobulinemia D and periodic fever syndrome are both recessively inherited, while three dominantly inherited syndromes have been described, the best-characterized of which is familial Hibernian fever...

Journal: :Anales de pediatria 2008
D Velasco Sánchez J Antón López J B Ros Viladoms J Yagüe Ribes J I Arostegui Gorospe

Tumoral necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited disease belonging to the hereditary periodic fever syndromes, which are the main subgroup among systemic autoinflammatory diseases. TRAPS is characterized by prolonged and recurrent inflammatory attacks associated with fever and an acute phase reaction. Articular, cutaneous, ocular and abd...

2011
K Chisholm A Bhatt S Freemman F Duke R Fuhlbrigge M Kenna G Licameli M Meyerson S Vargas F Dedeoglu

Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is a non-hereditary autoinflammatory disease, characterized by relatively regular recurrence of febrile episodes of 3-6 days duration, accompanied by aphthous stomatitis, pharyngitis/tonsillitis, and/or cervical adenititis. It is considered to be the most common periodic fever syndrome in Japan. Although no responsib...

2004
Christian Stehlik John C. Reed

Periodic fever syndromes (PFSs) comprise a subset of the hereditary autoinflammatory disorders that are defined by recurrent self-resolving attacks of systemic inflammatory reactions in the absence of infection or autoimmunity. Recent advances have led to the discovery that members of a new family of genes, the PYRIN family, account for several hereditary PFSs. Here we discuss new insights into...

Journal: :Best Practice & Research Clinical Rheumatology 2017

Journal: :The Journal of Experimental Medicine 2004
Christian Stehlik John C. Reed

Periodic fever syndromes (PFSs) comprise a subset of the hereditary autoinflammatory disorders that are defined by recurrent self-resolving attacks of systemic inflammatory reactions in the absence of infection or autoimmunity. Recent advances have led to the discovery that members of a new family of genes, the PYRIN family, account for several hereditary PFSs. Here we discuss new insights into...

2015
L Hovhannisyan

Introduction Human Autoinflammatory Diseases (HADs) is a heterogeneous group of rare genetic diseases, which are characterized by unprovoked onsets of inflammation, fever and clinical symptoms analogous with rheumatic diseases with absence of immunological indicators. Familial Mediterranean Diseases (FMF) is one of the popular forms in the group of syndromes which are called HPFS. Clinical char...

2012
Afig Berdeli Sinem Nalbantoglu

Autoinflammatory disorders are multisystem periodic fever syndromes, and characterized with recurrent unprovoked inflammation of the serosal membranes. Unlike autoimmune disorders, autoinflammatory disorders lack the production of high-titer autoantibodies or antigen-specific T cells. These diseases primarily include hereditary syndromes (Table 1); Familial Mediterrenean fever (FMF), TNF recept...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2008
I Jéru P Duquesnoy T Fernandes-Alnemri E Cochet J W Yu M Lackmy-Port-Lis E Grimprel J Landman-Parker V Hentgen S Marlin K McElreavey T Sarkisian G Grateau E S Alnemri S Amselem

NALP proteins, also known as NLRPs, belong to the CATERPILLER protein family involved, like Toll-like receptors, in the recognition of microbial molecules and the subsequent activation of inflammatory and immune responses. Current advances in the function of NALPs support the recently proposed model of a disease continuum bridging autoimmune and autoinflammatory disorders. Among these diseases,...

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