Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation

Ophthalmology

Volumn 110, Issue 10, 2003, Pages 2040-2044

  Kurokawa, Toru ^a   Kikuchi, Takanobu ^b   Ohta, Kouichi ^a   Imai, Hiroki ^a   Yoshimura, Nagahisa ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ATROPINE; CORTICOSTEROID; METHYLPREDNISOLONE;

ADULT; ARTICLE; ASIAN; BLAU SYNDROME; CAMPTODACTYLY; CARD15 NOD2 GENE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DOSE RESPONSE; DRUG DOSE REDUCTION; EPITHELIOID CELL; EYE SYNECHIA; FATHER; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; GLAUCOMA; GRANULOMATOUS INFLAMMATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IRIDECTOMY; IRIS; IRITIS; LENS IMPLANTATION; LYMPHOCYTIC INFILTRATION; MALE; MOTHER; PHACOEMULSIFICATION; PRIORITY JOURNAL; R334W GENE; RASH; SCHOOL CHILD; SIBLING; SKIN BIOPSY; SYNDROME; UVEITIS; WILD TYPE;

EID: 0141747229     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(03)00717-6     Document Type: Article

References (12)

1. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985;107:689-93.
2. Pastores GM, Michels VV, Stickler GB, et al. Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr 1990;117:403-8.
3. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20.
4. Tromp G, Kuivaniemi H, Raphael S, et al. Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet 1996;59:1097-107.
5. Latkany PA, Jabs DA, Smith JR, et al. Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. Am J Ophthalmol 2002;134:897-904.
6. de Chadarévian JP, Raphael SA, Murphy GF. Histologic, ultrastructural, and immunohistochemical features of the granulomas seen in a child with the syndrome of familial granulomatous arthritis, uveitis, and rash. Arch Pathol Lab Med 1993;117:1050-2.
7. Ogura Y, Inohara N, Benito A, et al. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-κB. J Biol Chem 2001;276:4812-8.
8. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
9. Jabs DA, Houk JL, Bias WB, Arnett FC. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985;78:801-4.
10. Scerri L, Cook LJ, Jenkins EA, Thomas AL. Familial juvenile systemic granulomatosis (Blau's syndrome). Clin Exp Dermatol 1996;21:445-8.
11. Manouvrier-Hanu S, Puech B, Piette F, et al. Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. Am J Med Genet 1998;76:217-21.
12. Ewida AS, Raphael SA, Abbasi JA, et al. Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. Appl Immunohistochem Mol Morphol 2002; 10:171-7.