Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases

Masson, Charles; Simon, Virginie; Hoppé, Emmanuel; Insalaco, Paolo; Cissé, Idrissa; Audran, Maurice

doi:10.1016/j.jbspin.2003.10.008

Cited by 49 publications

(23 citation statements)

References 43 publications

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“…Ligands of the epidermal growth factor receptor, for example, which regulate a variety of developmental processes and are involved in several human cancers, are synthesized as transmembrane proteins that require ectodomain shedding by tumor necrosis factor-a converting enzyme (or ADAM17) for biological activity (1). The failure to shed a cytokine receptor in response to normal stimuli contributes to tumor necrosis factor receptor -associated periodic syndrome, an inherited disease associated with tumor necrosis factor receptor gene mutations that is characterized by recurrent attacks of fever and pain in the joints, abdomen, muscles, skin, and eyes (2). These well-studied cases of ectodomain shedding illustrate its fundamental biological relevance, but much more remains to learned about shedding and its consequences in other signaling networks.…”

mentioning

confidence: 99%

c-Met Ectodomain Shedding Rate Correlates with Malignant Potential

Athauda¹,

Giubellino²,

Coleman³

et al. 2006

Clinical Cancer Research

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Purpose: Many proteins are proteolytically released from the cell surface by a process known as ectodomain shedding. Shedding occurs under normal physiologic conditions and can be increased in certain pathologies. Among the many receptors for which ectodomain shedding has been shown is c-Met, the hepatocyte growth factor (HGF) receptor tyrosine kinase. HGF stimulates mitogenesis, motogenesis, and morphogenesis in a variety of cellular targets during development, homeostasis, and tissue regeneration. Inappropriate HGF signaling resulting in unregulated cell proliferation, motility, and invasion occurs in several human malignancies. This can occur through paracrine signaling, autocrine loop formation, receptor mutation, gene amplification, or gene rearrangement, accompanied frequently with overexpression of ligand and/or receptor proteins.We hypothesized that c-Met overexpression in cancer might result in increased ectodomain shedding, and that its measure could be a useful biomarker of tumor progression. Experimental Design: We developed a sensitive electrochemiluminescent immunoassay to quantitate c-Met protein in cell lysates, culture supernatants, and biological samples. Results: A survey of cultured cell models of oncogenic transformation revealed significant direct correlations (P < 0.001, t test orANOVA) between malignant potential and the rate of c-Met ectodomain shedding that was independent of steady-state receptor expression level. Moreover, weekly plasma and urine samples from mice harboring s.c. human tumor xenografts (n = 4 per group) displayed soluble human c-Met levels that were measurable before tumors became palpable and that correlated directly with tumor volume (R 2 > 0.92, linear regression).Conclusions: For a variety of human cancers, c-Met ectodomain shedding may provide a reliable and practical indicator of malignant potential and overall tumor burden.

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mentioning

confidence: 99%

c-Met Ectodomain Shedding Rate Correlates with Malignant Potential

Athauda¹,

Giubellino²,

Coleman³

et al. 2006

Clinical Cancer Research

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“…Recently, it has been shown that reduced NFkB signalling is a feature of four TRAPS mutations. 10 It has been demonstrated that the he T50K TRAPS-related variant is capable of sustaining inappropriate NFkB activation, resulting in persistent auto-inflammation in target organs such as skin, synovial membrane and the central nervous system. 11 It has been concluded that some of the inflammatory processes seen in TRAPS do not involve direct interaction of TNF with its receptors, but that other proinflammatory mechanisms capable of upregulating TNFRI expression may cause cellular activation through the NFkB signaling pathway.…”

Section: Pathogenesis Of Trapsmentioning

confidence: 99%

Skin manifestations in Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)New article

Schmaltz¹,

Vogt

Reichrath³

2010

Dermato-Endocrinology

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“…These include the Cold Induced Autoinflammatory Syndromes -1 (CIAS-1) (Aróstegui et al 2004), the TNF Receptor Associated Periodic Syndrome (TRAPS) (Masson et al 2004, Aganna et al 2003, and the Hyper-IgD syndrome (Prietsch et al 2003). A preliminary list of molecular defects and mechanisms of the auto-inflammatory syndromes is depicted in Table II.…”

Section: The Example Of the Auto-inflammatory Syndromesmentioning

confidence: 99%

Future perspective for diagnosis in autoimmune diseases

Andrade

2009

An. Acad. Bras. Ciênc.

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Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerable progress, this approach is rather insufficient when it comes to systemic inflammatory conditions, such as systemic lupus erythematosus, that covers clinical conditions ranging from mild pauci-symptomatic diseases to rapidly fatal conditions. The treatment for such conditions is often insufficient and novel approaches are needed for further progress in these areas of Medicine. A recent breakthrough has been achieved with respect to chronic auto-inflammatory syndromes, in which molecular dissection of underlying gene defects has provided directions for target-oriented therapy. Such approach may be amenable to application in systemic auto-immune diseases with the comprehension that such conditions may be the consequence of interaction of specific environmental stimuli and an array of several and interconnected gene polymorphisms. On the bulk of this transformation, the application of principles of pharmacogenetics may lead the way towards a progressively stronger personalized Medicine.Key words: autoimmunity, pharmacogenetics, gene polymorphism, auto-inflammatory diseases, systemic lupus erythematosus, rheumatoid arthritis. HISTORICAL PERSPECTIVE IN DIAGNOSIS PARADIGMSince ancient times, human beings have struggled to provide help to those suffering from the diverse illnesses that affect mankind and other living beings. Primitive paradigms were mainly based on instinct, mysticism and supernatural approaches. Dance rituals and magic medicines were the answer that those early professionals provided to the sufferers. With the advent of the early founders of the contemporary medical science in the Mediterranean area, a rational, observational and ethical approach was progressively established. Accordingly, the diagnostic and therapeutic approaches wereIn commemoration of the 75 th anniversary

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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases

Cited by 49 publications

References 43 publications

c-Met Ectodomain Shedding Rate Correlates with Malignant Potential

c-Met Ectodomain Shedding Rate Correlates with Malignant Potential

Skin manifestations in Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)New article

Future perspective for diagnosis in autoimmune diseases

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