Familial case of Blau syndrome associated with a CARD15/NOD2 mutation

Ophthalmic Genetics

Volumn 31, Issue 3, 2010, Pages 155-158

  Villanueva Mendoza, Cristina ^a   Arellanes Garca, Lourdes ^a   Cubas Lorenzo, Victoria ^a   Jimenez Martinez, Maria C ^b   Flores Surez, Luis Felipe ^c   Zenteno, Juan Carlos ^b  

^a Genetics ^*  (Mexico)

^b UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^c INSTITUTO NACIONAL DE ENFERMEDADES RESPIRATORIAS   (Mexico)

Author keywords

Arthritis; Blau; Camptodactyly; CARD15 NOD2; Uveitis

Indexed keywords

ACETAZOLAMIDE; CASPASE RECRUITMENT DOMAIN PROTEIN 15; METHOTREXATE; PREDNISONE ACETATE; SALAZOSULFAPYRIDINE; NOD2 PROTEIN, HUMAN;

ADULT; ARTICLE; BLAU SYNDROME; CAMPTODACTYLY; CASE REPORT; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HUMAN; IRIDECTOMY; IRIDOCYCLITIS; LENS IMPLANT; MALE; PAPILLITIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RASH; RECURRENT DISEASE; RETINA MACULA CYSTOID EDEMA; RETINA VASCULITIS; RHEUMATOID ARTHRITIS; VISUAL ACUITY; ARTHROPATHY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENETICS; PEDIGREE; POINT MUTATION; SYNDROME; YOUNG ADULT;

ADULT; ARTHRITIS, RHEUMATOID; EXANTHEMA; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; JOINT DISEASES; NOD2 SIGNALING ADAPTOR PROTEIN; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECURRENCE; SYNDROME; UVEITIS, ANTERIOR; YOUNG ADULT;

EID: 77955545389     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.492818     Document Type: Article

References (11)

1. Aróstegui JI, Arnal C, Merino R, et al. NOD2 Gene-Associated pediatric granulomatous artritis. Clinical Diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis & Rheumatism, 2007; 56(11): 3805-3813.
2. Snyers B, Dahan K. Blau syndrome associated with CARD15/NOD2 mutation. American Journal of Ophthalmology 2006; 142: 1089-1092.
3. Wang X, Kuivaniemi H, Bonavita G, et al. CARD15 Mutations in familial granulomatosis syndromes. A study of the original Blau syndrome kindred and other famlies with large-vessel arteritis and cranial neuropathy. Arthritis & Rheumatism, 2002; 46(11): 3041-3045.
4. Rosé CD, Wouters CH, Meiorin S, et al. Pediatric granulomatous arthritis. An international registry. Arthritis & Rheumatism, 2006; 54(10): 3337-3344.
5. Van Duist MM, Albrecht M, Podswiadek M, et al. A new CARD15 mutation in Blau syndrome. European Journal of Human Genetics, 2005; 13: 742-747.
6. Ogura Y, Inohora N, Benito A, et al. NOD2, a NOD1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. Journal of Biological Chemistry, 2001; 276: 4812-4818.
7. Martin TM, Zhang Z, Kurz P, et al. The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. Arthritis & Rheumatism, 2009; 60(2): 611-618.
8. Schaffer JV, Chandra P, Keegan BR, et al. Widespread granulomatous dermatitis of infancy. An early sign of Blau syndrome. Archives of Dermatology, 2007; 143: 386-391.
9. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nature Genetics 2001; 29(1): 19-20.
10. Kurokawa T, Kikuchi T, Ohta K, et al. Ocular manifestations in Blau syndrome associated with CARD15/NOD2 mutation. Ophthalmology, 2003; 110: 2040-2044.
11. Wilmanski JM, Petnicki-Ocwieja T, Kabayashi KS. NLR proteins: integral members of innate immunity and mediators of inflammatory diseases. Journal of Leukocyte Biology, 2008; 83(1): 13-30.