Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Blau-Syndrom

Das Blau-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen in der zentralen Domäne des NOD2-Gen hervorgerufen wird. Sie manifestiert sich meist schon im Kindesalter mit granulo,atöser Arthritis , Uveitis und einem papulösen Exanthem.

Gliederung

NOD2-assoziierte Erkrankung
Blau-Syndrom
NOD2
inflammatory_bowel_disease_1_crohn_disease
yao_syndrome

Referenzen:

1.

Ukae S et al. (1994) Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases.

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2.

Borzutzky A et al. (2010) NOD2-associated diseases: Bridging innate immunity and autoinflammation.

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3.

Alonso D et al. (2003) Blau syndrome: a new kindred.

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4.

Latkany PA et al. (2002) Multifocal choroiditis in patients with familial juvenile systemic granulomatosis.

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5.

Shetty AK et al. (1998) Sarcoidosis: a pediatric perspective.

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6.

Manouvrier-Hanu S et al. (1998) Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.

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7.

Sakurai Y et al. (1997) Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis.

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8.

Tromp G et al. (1996) Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

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9.

Saini SK et al. (1996) Liver involvement in familial granulomatous arthritis (Blau syndrome).

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10.

Raphael SA et al. (1993) Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis.

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11.

Miceli-Richard C et al. (2001) CARD15 mutations in Blau syndrome.

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12.

Rotenstein D et al. (1982) Familial granulomatous arteritis with polyarthritis of juvenile onset.

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13.

None (1985) Familial granulomatous arthritis, iritis, and rash.

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14.

Jabs DA et al. (1985) Familial granulomatous synovitis, uveitis, and cranial neuropathies.

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15.

Pastores GM et al. (1990) Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts.

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16.

Dhondt V et al. () Leg ulcers: a new symptom of Blau syndrome?

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17.

Goyal M et al. (2007) Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.

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18.

Kanazawa N et al. (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

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19.

Kanazawa N et al. (2004) Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation.

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Update: 3. November 2022
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