Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy

Rider, Lisa G.; Gurley, R. C.; Pandey, Janardan P.; Torre, Ignacio García‐De La; Kalovidouris, Apostolos E.; O'Hanlon, Terrence P.; Love, Lori A.; Hennekam, R.C.M.; Baumbach, L.; Neville, Hans E.; García, C.; Klingman, Jeffrey; Gibbs, Michael; Weisman, Michael H.; Targoff, Ira N.; Miller, Frederick W.

doi:10.1002/1529-0131(199804)41:4<710::aid-art19>3.0.co;2-k

Cited by 66 publications

(37 citation statements)

References 52 publications

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“…There is evidence of genetic predisposition for JDM disease susceptibility, class II Ag DQA1*0501 (7), in linkage disequilibrium with DQA1*0301 (25), as well as for JDM disease chronicity, and the TNF-␣-308 A allele (19). We performed expression profiling of 5600 genes by using highly redundant (40 probes/gene; ϳ240,000 features) Affymetrix GeneChips to determine the pathophysiologic pathways that contribute to the muscle pathology.…”

Section: Discussionmentioning

confidence: 99%

Gene Expression Profiling in DQA1*0501+ Children with Untreated Dermatomyositis: A Novel Model of Pathogenesis

Težak

Hoffman

Lutz³

et al. 2002

The Journal of Immunology

221

143

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Juvenile dermatomyositis (JDM), the most common pediatric inflammatory myopathy, is a systemic vasculopathy affecting young children. Epidemiology studies documenting an antecedent illness in the 3 mo before the first definite symptom (rash and/or weakness) of JDM are supported by immunologic data that suggest that the disease pathophysiology is Ag driven. The purpose of this study was to compare the gene expression profiles in muscle biopsies of four untreated DQA1*0501+ JDM children with profiles from children with a known necrotizing myopathy (Duchenne muscular dystrophy), as well as an in vitro antiviral model (NF90), and healthy pediatric controls. Nearly half (47%) of the dysregulated genes in JDM were associated with the immune response. In particular, increased expression of IFN-αβ-inducible genes 6-16, myxovirus resistance protein p78, latent cytosolic transcription factor, LMP2, and TAP1 was observed. This profile is consistent with an IFN-αβ transcription cascade seen in the in vitro viral resistance model. The IFN-αβ-inducible profile was superimposed on transcription profiles reflective of myofiber necrosis and regeneration shared with Duchenne muscular dystrophy. Expressed genes were confirmed by quantitative real-time PCR (6-16), immunofluorescence (thrombospondin 4), and immunolocalization (IFN-γ, p21). We hypothesize that these data support a model of Ag (?viral) induction of an apparent autoimmune disease based on dynamic interaction between the muscle, vascular, and immune systems in the genetically susceptible (DQA1*0501+) child.

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Section: Discussionmentioning

confidence: 99%

Gene Expression Profiling in DQA1*0501+ Children with Untreated Dermatomyositis: A Novel Model of Pathogenesis

Težak

Hoffman

Lutz³

et al. 2002

The Journal of Immunology

221

143

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“…Det er beskrevet JDM hos eneggede tvillinger (31,32), men familiaer opphopning er sjelden. Det er funnet økt frekvens av autoimmun sykdom i familiene til barn med JDM (32).…”

Section: Genetisk Disposisjon/mikrokimerismeunclassified

Juvenile idiopatiske inflammatoriske myopatier

Sanner¹

2009

Nor J Epidemiol

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ENGLISH SUMMARYSanner H. The epidemiology of juvenile idiopathic inflammatory myopathies.Nor J Epidemiol 2008; 18 (1): 78-82.Juvenile idiopathic inflammatory myopathies (JIIM) is a group of rare autoimmune systemic diseases in children and adolescents, characterized by chronic skeletal muscle inflammation. Unlike in adults, dermatomyositis (JDM) is by far the most common of the idiopathic inflammatory myopathies in children and adolescents. De første tilfellene av barne-myositt ble beskrevet av flere undersøkere på 1880-tallet. Først i 1966 laget Pearson en inndeling av myopatier der juvenil myopati ble atskilt fra adult myopati (1). Samme år oppdaget Banker og Victor at den juvenile formen histopatologisk er karakterisert av vaskulitt i små blodårer i større grad enn ved adult form (2). Fortsatt ser man på juvenile myopatier som en egen form med saeregne karakteristika.Et viktig skille mellom adult IIM og juvenil IIM er fordelingen mellom de ulike undergrupper. Hos barn og ungdom er dermatomyositt (JDM) den hyppigste undergruppen (utgjør 85%, mens DM utgjør ca. 37% av adulte myopatier). Polymyositt hos barn og ungdom (JPM) utgjør ca. 8% (mens PM utgjør ca. 27% av adulte myopatier). Andre juvenile myopatiformer, inkludert overlappsformer, utgjør ca. 7% (3).Det er ikke internasjonal enighet om ved hvilken alder inflammatoriske myopatier skifter karakteristika fra juvenil til adult form. Dette skyldes at det ikke foreligger studier som gir tilstrekkelig informasjon om dette. Den hyppigst brukte aldersgrensen i internasjonale kliniske studier er 16 år, men alt fra 15 til 20 år benyttes som grense.Man regner med at 10-20% av alle poly-og dermatomyositter oppstår hos barn og ungdom, 80-90% hos voksne. Det er holdepunkter for en bimodal aldersfordeling av disse sykdommene, med en økt insidensrate i 5-14 års alder, men en betydelig høyere insidensrate i 45-64 års alder (4,5). Denne aldersfordelingen støtter antagelsen om at juvenil og adult form er ulike sykdommer.I denne oversikten omtales juvenil dermatomyositt siden dette er den hyppigst forekommende formen av juvenil IIM. JUVENIL DERMATOMYOSITTJuvenil dermatomyositt (JDM) er en autoimmun systemsykdom. Den underliggende patologiske prosess er en vaskulitt/vaskulopati som involverer kapillaerer og arterioler.JDM-pasientene debuterer ofte med uspesifikke symptomer, inkludert feber, trøtthet og nedsatt utholdenhet. Proksimal, symmetrisk muskelsvakhet inkludert svakhet i nakke-og bukmuskulatur er de hyppigste muskulaere symptomene. Nedsatt funksjon i form av vansker med gange, trappegang og huksitting, er vanlig. Noen barn blir uttalt muskulaert affisert. Muskulatur i svelg kan også affiseres (stemmeforandringer, svelgproblemer). Hudsymptomene ved JDM ligner adult DM (Gottrons, heliotropi og periungualt erytem). Malart erytem er imidlertid hyppigere ved juvenil debut. Andre organer som mage-tarm kanalen (vaskulitt), hjertet (arytmier, perikarditt), lungene (interstitiell lungesykdom) og ledd (artralgi og artritt) kan også affiseres.Selv om JDM har mange likheter med adu...

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“…Others enroll immune disturbances and genetic profiles as causative determinants for the onset of PM and DM. In the latter, disruption of immunological tolerance is considered a factor that probably accounts to the development of muscular lesions, since such lesions may consist in a pathological outcome of the autoantibodies found in a significant number of patients with PM 6,17 . In addition, the augmented frequency of the HLA-B8 and DR3 haplotype among patients diagnosed with this pathology suggests that a genetic profile may predispose to the its onset 18 .…”

Section: Levels Of Serum Aldolase (Ui/l)mentioning

confidence: 99%

“…Current diagnosis of PM is assessed by means of compatible clinical findings (proximal muscle weakness) and measurements of serum muscle enzymes, electromyography and muscle biopsy 5 . Even though causes for PM remain undetermined, an increasing awareness that genetic factors are implicated has evolved from different studies 6,7 . In spite of that, the occurrence of more than one case within the same family still consists in a rare event 6,8,9 .…”

mentioning

confidence: 99%

“…Even though causes for PM remain undetermined, an increasing awareness that genetic factors are implicated has evolved from different studies 6,7 . In spite of that, the occurrence of more than one case within the same family still consists in a rare event 6,8,9 . This study has the purpose to describe anamnesis and testing procedures which resulted in the diagnosis of two patients with PM within the same parenthood, and to report treatment and evolution of both patients documented over almost two decades.…”

mentioning

confidence: 99%

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Polymyositis: clinical investigation in two sisters

Karnikowski

Costa

Osella

et al. 2002

Arq. Neuro-Psiquiatr.

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-We present an investigation of a case of polymyositis affecting two sisters of one same parenthood. Their cases have been documented for almost two decades, being investigated by means of a diagnostic protocol which combined clinical findings as well as laboratorial, histopathological and image tests. In both cases, clinical manifestations started in childhood, without signs of involvement of the central and peripheral nervous system. Both patients proved to respond to a therapeutics based on corticosteroids. The degree of relatedness between their parents corroborate the notion that genetic factors may contribute to the development of the disease.KEY WORDS: polymyositis, inflammatory myopathy.

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Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy

Cited by 66 publications

References 52 publications

Gene Expression Profiling in DQA1*0501+ Children with Untreated Dermatomyositis: A Novel Model of Pathogenesis

Gene Expression Profiling in DQA1*0501+ Children with Untreated Dermatomyositis: A Novel Model of Pathogenesis

Juvenile idiopatiske inflammatoriske myopatier

Polymyositis: clinical investigation in two sisters

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