Hereditary Periodic Fever Syndromes

Kastner, Daniel L.

doi:10.1182/asheducation-2005.1.74

Cited by 92 publications

(98 citation statements)

References 56 publications

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“…45,46 The clinical manifestations of TRAPS usually arise in childhood or adolescence (mean age, 10 years; range, 1 to 63 years). 6,7 Duration of fever is longer than in any other AIS: 14 days on average, ranging from 2 to 56 days.…”

Section: Tnf Receptor Associated Periodic Syndrome (Traps)mentioning

confidence: 99%

“…8,16,33 Definitive diagnosis requires a finding of MEFV mutations. 6,7 The main complication of FMF is secondary AA-type amyloidosis, which occurs in up to 13% of patients.…”

Section: Familial Mediterranean Fever (Fmf)mentioning

confidence: 99%

“…10 Due to the importance of fever in diagnosing AIS, they are also known as periodic fever syndromes. 6 The presence of fever is not, however, indispensable for establishing a diagnosis; in some syndromes, such as the pyogenic AIS, fever is actually rare or altogether absent. 7 This review seeks to describe the main autoinflammatory syndromes and their epidemiologic features, clinical manifestations, associated laboratory changes, prognosis, and management.…”

Section: Introductionmentioning

confidence: 99%

“…5 The clinical picture of these syndromes is characterized by recurrent or persistent inflammatory symptoms affecting various organs and body systems, and the AIS must be distinguished from infectious diseases, autoimmune conditions, and other primary immunodeficiencies. 6 Unlike in pediatric autoimmune conditions such as juvenile idiopathic arthritis (JIA), juvenile systemic lupus erythematosus, or juvenile dermatomyositis, self-reactive T cells or high circulating autoantibody titers are not found in the AIS spectrum. Hence, the conditions in this group were termed "autoinflammatory."…”

Section: Introductionmentioning

confidence: 99%

“…8 Recurrent fever is the most prevalent manifestation, and is accompanied by other signs and symptoms of inflammation, particularly affecting the skin, eyes, bones, joints, gastrointestinal tract, CNS, and serous membranes. [6][7][8][9] Fever may recur in precise or irregular intervals, or, in rare cases, may even be continuous. 10 Due to the importance of fever in diagnosing AIS, they are also known as periodic fever syndromes.…”

Section: Introductionmentioning

confidence: 99%

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Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

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Objective: To describe the most prevalent pediatric hereditary autoinflammatory syndromes.Sources: A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. Summary of the findings:The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. These syndromes are characterized by recurrent or persistent systemic inflammatory symptoms and must be distinguished from infectious diseases, autoimmune diseases, and other primary immunodeficiencies. This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pediatric granulomatous arthritis; pyogenic arthritis, pyoderma gangrenosum and acne syndrome; Majeed syndrome; and deficiency of interleukin 1 receptor antagonist. The cryopyrinopathies discussed include neonatal-onset multisystem inflammatory disease (also known as chronic infantile neurologic, cutaneous and articular syndrome) Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. Conclusions:Pediatricians must recognize the clinical features of the most prevalent autoinflammatory syndromes. Early referral to a pediatric rheumatologist may allow early diagnosis and institution of treatment, with improvement in the quality of life of these patients.

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Section: Tnf Receptor Associated Periodic Syndrome (Traps)mentioning

confidence: 99%

“…8,16,33 Definitive diagnosis requires a finding of MEFV mutations. 6,7 The main complication of FMF is secondary AA-type amyloidosis, which occurs in up to 13% of patients.…”

Section: Familial Mediterranean Fever (Fmf)mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

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Caspases in Inflammation and Immunity

LeBlanc

Saleh

2009

Encyclopedia of Life Sciences

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Two of the main challenges that eukaryotic multicellular organisms faced during evolution were to cope with invading microorganisms and to eliminate infected cells. The immune system evolved to handle both tasks. Intertwined with immunity is programmed cell death that tailors the immune response and provides an effective way to remove infected cells. Caspases, effectors of inflammation and programmed cell death cascades, are perfectly suited to regulate the host response to invaders and injury. Their activity as inflammatory and killer proteases is regulated by direct binding to sensors of pathogens or danger, they can be modified following activation of signalling cascades by feedback mechanisms to terminate the inflammatory response and control cell survival, and they associate with coactivators and corepressors whose expression is closely linked to the needs of the cell. Key concepts Cell death and innate immunity are ancient evolutionarily conserved processes that utilize a number of related effectors and parallel signal transduction mechanisms. Innate immunity provides first line defences against pathogens and acts as a sentinel that primes adaptive immunity. Innate immunity depends on evolutionarily conserved germline‐encoded pattern recognition receptors (PRRs) that ‘sense’ pathogen‐associated molecular patterns (PAMPs) and ‘danger’ signals. The role of caspases in innate immunity is conserved through evolution. Caspase‐1, the prototypical member of the inflammatory caspase subfamily, contributes to host defence through different interrelated mechanisms, notably cell repair, inflammation and cell death. Caspase‐1 activity is necessary for host resistance to pathogens; however, when deregulated, it is at the basis of multiple inflammatory diseases. Inflammatory caspases are activated in NLR‐scaffolded multiprotein complexes termed ‘inflammasomes’ that are reminiscent of the apoptosome. Caspase‐12, an inflammatory caspase related to caspase‐1, is an endogenous inhibitor of the inflammasome. Apoptosis tailors adaptive immunity. Mutations in Casp‐8 and Casp‐10 cause autoimmune lymphoproliferative syndrome (ALPS). Excessive apoptotic caspase activity contributes to the pathogenesis of inflammatory diseases such as severe sepsis.

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A role for geranylgeranylation in interleukin‐1β secretion

Mandey

Kuijk

Frenkel

et al. 2006

Arthritis & Rheumatism

172

134

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Objective. Mevalonate kinase deficiency (MKD) is an autosomal-recessive disorder characterized by recurring episodes of inflammation. MK catalyzes the phosphorylation of mevalonic acid, which is an early step in isoprenoid biosynthesis. The goal of our study was to determine whether a temporary shortage of certain isoprenoid end products and/or the accumulation of mevalonic acid is the cause of interleukin-1␤ (IL-1␤) secretion in MKD.Methods. We studied the effect of the addition of intermediate metabolites and inhibitors of the isoprenoid biosynthesis pathway on IL-1␤ secretion by peripheral blood mononuclear cells (PBMCs) of patients with MKD and healthy controls.Results. Inhibition of enzymes involved in geranylgeranyl pyrophosphate (GGPP) synthesis or geranylgeranylation of proteins led to a marked increase of lipopolysaccharide-stimulated IL-1␤ secretion in PBMCs of control subjects. Furthermore, the increased IL-1␤ secretion by PBMCs of patients with MKD was reversed by supplementation with GGPP as well as with mevalonic acid. IL-1␤ secretion was increased only when control PBMCs were incubated with excessive amounts of mevalonic acid. Finally, a reduction in IL-1␤ secretion by MKD PBMCs was also observed when sterol biosynthesis was inhibited, favoring nonsterol isoprenoid biosynthesis. Conclusion.Our results indicate that a shortage of geranylgeranylated proteins, rather than an excess of mevalonate, is likely to cause increased IL-1␤ secretion by PBMCs of patients with MKD.

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Hereditary Periodic Fever Syndromes

Cited by 92 publications

References 56 publications

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Caspases in Inflammation and Immunity

A role for geranylgeranylation in interleukin‐1β secretion

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