Autoinflammatory syndromes: report on three cases

Matos, Thais Cunha; Terreri, Maria Teresa; Petry, Daniela Gerent; Barbosa, Cássia Maria Passarelli Lupoli; Len, Cláudio Arnaldo; Hilário, Maria Odete Esteves

doi:10.1590/s1516-31802009000500012

“…Previous reports from this continent have been published as case reports or series without genetic confirmation [15][16][17]. Matos et al described three Brazilian patients with different HPFS (CAPS, FMF, and TRAPS).…”

Section: Discussionmentioning

confidence: 99%

“…Matos et al described three Brazilian patients with different HPFS (CAPS, FMF, and TRAPS). Although they stated that patients with TRAPS and CAPS had genetic confirmation, details about specific mutations were not provided [15]. A larger series of 52 patients with a clinical diagnosis of FMF from Mexico City, 13 of which were Syrian born, showed typical clinical characteristics and no patients with reactive AA-type amyloidosis.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience

Vergara

¹

,

Borzutzky

²

,

Gutiérrez

³

et al. 2012

View full text Add to dashboard Cite

Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1-35) and 8 years (range 0.3-21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5-15) for FMF and 21 days (range 9.5-30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations.

show abstract

“…O nosso país é miscigenado e essas doenças são possivelmente subdiagnosticadas, sendo necessário o seu reconhecimento para instituição de tratamento individualizado 43,71,128,129 .…”

Section: Considerações Finaisunclassified

Pediatric hereditary autoinflammatory syndromes

Jesus

¹

,

Oliveira

²

,

Hilário

³

et al. 2010

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 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...

show abstract

“…6,10 The signs and symptoms presented in Tables 2 and 3 proper recognition of these conditions is essential for individualized treatment. 43,71,128,129 …”

Section: Final Considerationsmentioning

confidence: 99%

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

Self Cite

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.

show abstract

Autoinflammatory syndromes: report on three cases

Cited by 7 publications

References 4 publications

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience

Pediatric hereditary autoinflammatory syndromes

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Contact Info

Product

Resources

About