With a mere nod, uveitis enters a new era

Research output: Contribution to journalArticle

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Abstract

PURPOSE: To advance the knowledge of the ophthalmologist with regard to new developments in the genetics and pathologic mechanisms of uveitis. DESIGN: A review of recently published literature exploring the relationship between the nucleotide oligomerization domain (NOD2) gene and uveitis. RESULTS: Mutations in the nucleotide-binding region of NOD2 were found to be responsible for familial juvenile systemic granulomatosis (Blau syndrome or Jabs disease), a rare form of uveitis, arthritis, and dermatitis. The NOD2 gene is thought to be involved in the innate immune response to pathogens. Currently, the pathologic mechanisms behind Blau syndrome in familial juvenile systemic granulomatosis are unknown, but the interactions of NOD2 with caspases, nuclear factor κB, and other pathways are slowly being revealed. CONCLUSIONS: A single amino acid change in NOD2 can lead to a chronic granulomatous uveitis. By studying NOD2 and the proteins that interact with NOD2, we should gain a better understanding of the pathogenic mechanisms of uveitis and identify novel ways to halt its destructive consequences.

Original languageEnglish (US)
Pages (from-to)729-732
Number of pages4
JournalAmerican Journal of Ophthalmology
Volume136
Issue number4
DOIs
StatePublished - Oct 1 2003

Fingerprint

Uveitis
Nucleotides
Dermatitis
Caspases
Rare Diseases
Innate Immunity
Genes
Arthritis
Amino Acids
Mutation
Blau syndrome
Proteins

ASJC Scopus subject areas

  • Ophthalmology

Cite this

With a mere nod, uveitis enters a new era. / Rosenbaum, James (Jim); Planck, Stephen; Davey, Michael; Iwanaga, Yoichi; Kurz, Daryl E.; Martin, Tammy.

In: American Journal of Ophthalmology, Vol. 136, No. 4, 01.10.2003, p. 729-732.

Research output: Contribution to journalArticle

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AU - Davey, Michael

AU - Iwanaga, Yoichi

AU - Kurz, Daryl E.

AU - Martin, Tammy

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AB - PURPOSE: To advance the knowledge of the ophthalmologist with regard to new developments in the genetics and pathologic mechanisms of uveitis. DESIGN: A review of recently published literature exploring the relationship between the nucleotide oligomerization domain (NOD2) gene and uveitis. RESULTS: Mutations in the nucleotide-binding region of NOD2 were found to be responsible for familial juvenile systemic granulomatosis (Blau syndrome or Jabs disease), a rare form of uveitis, arthritis, and dermatitis. The NOD2 gene is thought to be involved in the innate immune response to pathogens. Currently, the pathologic mechanisms behind Blau syndrome in familial juvenile systemic granulomatosis are unknown, but the interactions of NOD2 with caspases, nuclear factor κB, and other pathways are slowly being revealed. CONCLUSIONS: A single amino acid change in NOD2 can lead to a chronic granulomatous uveitis. By studying NOD2 and the proteins that interact with NOD2, we should gain a better understanding of the pathogenic mechanisms of uveitis and identify novel ways to halt its destructive consequences.

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