A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome

Trübenbach, J.; Wildhardt, G.; Niebel, J; Hawle, Hanne; Steinberger, Daniela

doi:10.1007/s00296-009-0996-2

“…É comum também a presença de anemia normocítica e normocrômica 8,43 . O diagnóstico de certeza é dado pelo sequenciamento do gene TNFRSF1A em DNA genômico 47,52 . Mutações são encontradas em 32 a 50% dos pacientes com história familiar de TRAPS, e em menos de 10% dos casos esporádicos 53 .…”

Section: Síndromes Periódicas Associadas à Criopirina (Cryopyrin Assounclassified

Pediatric hereditary autoinflammatory syndromes

Jesus

¹

,

Oliveira

²

,

Hilário

³

et al. 2010

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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 neonatalonset 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. J Pediatr (Rio J). 2010;86(5):353-366:Autoinflammatory syndromes, child, familial Mediterranean fever, cryopyrinopathies, TRAPS, NOMID. ResumoObjetivo: Descrever as principais síndromes autoinflamatórias hereditárias na faixa etária pediátrica. Fontes dos dados:Foi realizada uma revisão da literatura nas bases de dados PubMed e SciELO, utilizando as palavras-chave "síndro-mes autoinflamatórias" e "criança", e incluindo referências bibliográficas relevantes. Síntese dos dados:As principais síndromes autoinflamatórias são causadas por defeitos monogênicos em proteínas da imunidade inata, sendo consideradas imunodeficiências primárias. Elas são caracterizadas clinicamente por sintomas inflamatórios sistêmicos recorrentes ou contínuos e devem ser diferenciadas das doenças infecciosas, autoimunes e outras imunodeficiências primárias. Nesta revisão, foram enfatizadas características epidemiológicas, manifestações clínicas, alterações laboratoriais, prognóstico e terapia das principais síndromes autoinflamatórias: febre familiar do Mediterrâneo; síndrome periódica associada ao receptor de fator de necrose tumoral; criopirinopatias; deficiência de mevalonato-quinase; artrite granulomatosa pediátrica; síndrome de pioderma gangrenoso, artrite piogênica e acne; síndrome de Majeed; e deficiência do antagonista do receptor de interleucina-1. As criopirinopatias discutidas foram: doença inflamatória multissistêmica de início neonatal ou síndrome neurológica, cutânea e articu...

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“…8,43 Definitive diagnosis is established by DNA sequencing of the TNFRSF1A gene. 47,52 Mutations are found in 32 to 50%…”

Section: Tnf Receptor Associated Periodic Syndrome (Traps)mentioning

confidence: 99%

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

2

0

View full text Add to dashboard Cite

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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“…Keywords Hereditary periodic fever syndromes (HPFSs) Á Autoinflammatory syndromes Á TNF receptorassociated periodic fever syndrome (TRAPS) Á Exonic splicing enhancers (ESEs) Á ESEfinder Á RESCUE-ESE Dear Editor, We read with great interest the article by Trübenbach and colleagues reporting a patient affected by a hereditary periodic fever syndrome (HPFS), a disease belonging to human autoinflammatory syndromes, characterized by periodic fever and inflammation signs with or without involvement of inner organs [1]. Primarily, the index case was clinically diagnosed as having Familial Mediterranean Fever (FMF), which is caused by mutations in MEFV gene, but after genetic analysis, two monoallelic Tumor Necrosis Factor Receptor Superfamily Member 1A (TNFRSF1A) gene mutations were revealed.…”

Section: Letter To the Editormentioning

confidence: 99%