Overview and report on international registry of sarcoid arthritis in childhood

Lindsley, Carol B.; Petty, Ross E.

doi:10.1007/s11926-000-0073-z

Cited by 48 publications

(19 citation statements)

References 37 publications

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“…All except 2 patients (patient 6 with the R334Q mutation who also lacked skin eruptions and patient 20 with the C495Y mutation) had ocular lesions. The lesions were bilateral, although visual acuity was asymmetric, as in previous studies (22, 23). Moreover, 17 (89%) of all 18 patients with ocular lesions had panuveitis, while only 1 patient (patient 18 with mutation M513T) had anterior uveitis, which demonstrated the predominance of panuveitis over anterior uveitis.…”

Section: Resultssupporting

confidence: 79%

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early‐onset sarcoidosis

Okafuji¹,

Nishikomori²,

Kanazawa³

et al. 2008

Arthritis & Rheumatism

153

132

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Objective. Blau syndrome and its sporadic counterpart, early-onset sarcoidosis (EOS), share a phenotype featuring the symptom triad of skin rash, arthritis, and uveitis. This systemic inflammatory granulomatosis is associated with mutations in the NOD2 gene. The aim of this study was to describe the clinical manifestations of Blau syndrome/EOS in Japanese patients and to determine whether the NOD2 genotype and its associated basal NF-B activity predict the Blau syndrome/ EOS clinical phenotype.Methods. Twenty Japanese patients with Blau syndrome/EOS and NOD2 mutations were recruited. Mutated NOD2 was categorized based on its basal NF-B activity, which was defined as the ratio of NF-B activity without a NOD2 ligand, muramyldipeptide, to NF-B activity with muramyldipeptide.Results. All 9 mutations, including E383G, a novel mutation that was identified in 20 patients with Blau syndrome/EOS, were detected in the centrally located NOD region and were associated with ligandindependent NF-B activation. The median age of the patients at disease onset was 14 months, although in 2 patients in Blau syndrome families (with mutations R334W and E383G, respectively) the age at onset was 5 years or older. Most patients with Blau syndrome/EOS had the triad of skin, joint, and ocular symptoms, the onset of which was in this order. Clinical manifestations varied even among familial cases and patients with the same mutations. There was no clear relationship between the clinical phenotype and basal NF-B activity due to mutated NOD2. However, when attention was focused on the 2 most frequent mutations, R334W and R334Q, R334W tended to cause more obvious visual impairment.

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Section: Resultssupporting

confidence: 79%

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early‐onset sarcoidosis

Okafuji¹,

Nishikomori²,

Kanazawa³

et al. 2008

Arthritis & Rheumatism

153

132

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“…With this effort we hope to address some of the most urgent questions and expand on pioneering collaborative research in the field [44].…”

Section: Discussionmentioning

confidence: 99%

Blau syndrome and related genetic disorders causing childhood arthritis

Becker¹,

Rosé

2005

Curr Rheumatol Rep

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Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable from early onset sarcoidosis (EOS), both are now known to share a mutated form of caspase recruitment domain-15 (CARD 15), a protein involved in activation of nuclear factor kappa B which is in turn an up-regulator of pro-inflammatory cytokine transcription. An association between BS and EOS was suspected for years given the striking similarities of the core triad (arthritis-uveitis-dermatitis) and a common emerging pattern of systemic involvement. Hence, the familial form (BS) and the sporadic form (EOS) are almost certainly the same illness/defect, inherited in the first and acquired in the second as a result in most cases of a de novo mutation. Another form of granulomatous arthritis with uveitis, Crohn's disease, has also been associated with mutations in CARD 15 (albeit at a different domain) and despite similar phenotypes there are obvious differences including gut inflammation and pyoderma gangrenosum in Crohn's disease. This paper will review the clinical characteristics of these three disorders and their association with mutations in the CARD 15 gene.

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“…In der Literatur findet sich eine Visusminderung bei einem Viertel der Patienten im Alter von 0 -16 Jahren mit Augenbeteiligung im langfristigen Verlauf der Erkrankung. Von den 12 Patienten waren 3 komplett erblindet [16]. Eine weitere Langzeitbeobachtung von 6 Kindern mit frühem Beginn der Sarkoidose zeigte bei 4 Patienten eine bleibende Visusminderung [5].…”

Section: Methodeunclassified

“…Die Hauptursache für die Visusminderung war eine sekundäre Katarakt. Als weitere häufigere Komplikationen findet man ein Sekundärglaukom, eine Bandkeratopathie und die Ausbildung chorioretinaler Narben oder chorioidaler Neovaskularisationsmembranen, wie sie auch bei unseren Patienten beobachtet wurden [16]. Das Vorhandensein von visusbeeinträchtigenden Komplikation bei der Erstvorstellung betont die Notwendigkeit einer engmaschigen Betreuung und aggressiven antientzündlichen Therapie, um einen weiteren Visusverlust zu verhindern [3].…”

Section: Methodeunclassified