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Blau syndrome

Blau syndrome is an autosomal dominant disorder caused by mutations in the central (NACHT) domain of the NOD2 gene. It is characterized by early onset granulomatous arthritis, uveitis and reddish-brown papules.

Systematic

NOD2-associated disease
Blau syndrome
NOD2
inflammatory_bowel_disease_1_crohn_disease
yao_syndrome

References:

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: Nov. 3, 2022
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