Granulomatous nephritis associated with R334Q mutation in NOD2 [5]

Journal of Rheumatology

Volumn 34, Issue 9, 2007, Pages 1945-1947

  Meiorin, Silvia Mónica ^a,b   Espada, Graciela ^a   Costa, Christian Elias ^a   Tartara, Alejandra ^b   De Matteo, Elena ^b   Wouters, Carine ^c   Martin, Tammy M ^d   Rose, Carlos D ^e  

^a Department of Rheumatology ^*  (Argentina)

^b HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CORTICOSTEROID; ETANERCEPT; GLUTAMINE; INFLIXIMAB; METHOTREXATE;

AMINO ACID SUBSTITUTION; ARTHROPATHY; ATROPHY; COMBINATION CHEMOTHERAPY; DISEASE ASSOCIATION; GRANULOMATOSIS; HUMAN; KIDNEY BIOPSY; LETTER; NEPHRITIS; PRIORITY JOURNAL;

ARTHRITIS; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRANULOMA; HUMANS; NEPHRITIS; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE; UVEITIS;

EID: 35948985448     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (10)

1. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985;107:689-93.
2. Jabs DA, Houk JL, Bias WB, Arnett FC. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985;78:801-4.
3. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20.
4. Saini SK, Rose CD. Liver involvement in familial granulomatous arthritis (Blau syndrome). J Rheumatol 1996;23:396-9.
5. Rotenstein D, Gibbas DL, Majmudar B, Chastain EA. Familial granulomatous arteritis and polyarthritis of juvenile onset. New Engl J Med 1982;306:86-90.
6. Rose CD, Wouters CH, Meiorin S, et al. Pediatric granulomatous artritis. An international registry. Arthritis Rheum 2006;54:3337-44.
7. Ting SS, Ziegler J, Fischer E. Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. J Pediatr 1998;133:450-2.
8. Coutant R, Leroy B, Niaudet P, et al. Renal granulomatous sarcoidosis in childhood: a report of 11 cases and a review of the literature. Eur J Pediatr 1999;158:154-9.
9. Wang X, Kuivaniemi H, Bonavita G, et al. CARD15 mutations in familial granulomatous syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum 2002;46:3041-5.
10. Kanazawa N, Okafuji I, Kambe N, et al. Early-onset sarcoidosis and CARD15 mutations with consecutive nuclear factor kB activation: common genetic etiology with Blau syndrome. Blood 2005;105:1195-7.