Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab

The classic entity of autosomal dominant Blau syndrome (BS) consists of arthritis, dermatitis, and uveitis, occurring as a result of mutations in the NOD2 gene pattern recognition receptor. Sporadic cases are those in which no known gene mutation is identifiable. Uveitis in BS can be refractory to c...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of ophthalmology 2018-10, Vol.66 (10), p.1483-1485
Main Authors: Naik, Anmol, Annamalai, Radha, Biswas, Jyotirmay
Format: Article
Language:English
Subjects:
Adalimumab
Arthritis
Blau syndrome
Care and treatment
Case Reports
Case studies
Dermatitis
Diagnosis
Edema
Immunotherapy
Infliximab
Methotrexate
Monoclonal antibodies
Mutation
NOD2 protein
Ophthalmology
Pattern recognition receptors
Pediatric diseases
Point mutation
Sarcoidosis
Steroid hormones
Steroids
TNF inhibitors
Tumor necrosis factor-α
Uveitis
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The classic entity of autosomal dominant Blau syndrome (BS) consists of arthritis, dermatitis, and uveitis, occurring as a result of mutations in the NOD2 gene pattern recognition receptor. Sporadic cases are those in which no known gene mutation is identifiable. Uveitis in BS can be refractory to conventional therapy. We report a case of sporadic Blau uveitis managed with adalimumab monotherapy after failing to respond to topical steroids, systemic steroids, methotrexate, and infliximab therapy sequentially. Uveitis resolved completely with adalimumab and the patient has had a disease-free period over a 2-year follow-up with bi-monthly injections for arthritis control.
ISSN:0301-4738
1998-3689
DOI:10.4103/ijo.IJO_629_18