Blau syndrome and related genetic disorders causing childhood arthritis

Becker, Mara L.; Rosé, Carlos D.

doi:10.1007/s11926-005-0046-3

“…The caspase recruitment domain (CARD) 15 gene (also referred to as NOD2 gene) has been pointed as a risk susceptibility factor to develop Blau syndrome (MIM#186580), a chronic inflammatory disorder characterized by skin rash, chronic symmetric arthritis, camptodactyly and recurrent uveitis [1].…”

Section: Introductionmentioning

confidence: 99%

Blau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients

Rodríguez-Pérez

¹

,

Aguinaga-Barrilero

²

,

Gorroño-Echebarría

³

et al. 2009

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Abstract. Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2) mutations. Three main mutations in this gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features. However, little is known on the involvement of this gene in idiopathic uveitis. We thus sought to determine the frequency of these Blau-related CARD15 mutations in a cohort of Spanish patients with idiopathic uveitis. To this aim, 110 patients with idiopathic uveitis, followed at the Department of Ophtalmology of a tertiary hospital (Hospital Universitario Alcalá de Henares, Madrid. Spain) were enrolled. As a control population, 104 healthy subjects were used. DNA was extracted from blood samples and the Blau-related CARD15 mutations were analysed either by PCR-RFLP or direct DNA sequencing. None of the mutations studied was found in any of the individuals tested, whether diseased or healthy. It seems thus that Blau syndrome-related CARD15 mutations are not involved in idiopathic uveitis, a finding which allows us to suggest that the genetic aetiology of the idiopathic uveitis or the Blau-associated uveitis is different.

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“…O tratamento envolve o uso de AINH em pacientes com quadro clínico leve, enquanto que manifestações mais graves requerem corticoterapia sistêmica 7,119 . Outros tratamentos utilizados são metotrexate e ciclosporina, e o uso de imunobiológicos (etanercepte, infliximabe e anakinra) tem sido descrito, principalmente em pacientes com manifestações oculares refratárias 7,117,119. Síndrome de artrite piogênica asséptica, pioderma gangrenoso e acne (síndrome PAPA)…”

Section: Figura 3 -Exantema Ictisioseforme Em Paciente Com Sarcoidoseunclassified

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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“…18 Treatment is NSAID-based in patients with mild disease, whereas more severe manifestations require systemic corticosteroid therapy. 7,119 …”

Section: Mevalonate Kinase Deficiency (Mkd) or Hyper-igd And Periodicmentioning

confidence: 99%

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

2

0

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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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Blau syndrome and related genetic disorders causing childhood arthritis

Cited by 63 publications

References 31 publications

Blau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients

Blau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients

Pediatric hereditary autoinflammatory syndromes

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

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