Journal of American Association for Pediatric Ophthalmology and Strabismus
Short ReportUveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene
Section snippets
Case Report
A 2.5-year-old girl of Japanese and German descent with presumed atypical juvenile idiopathic arthritis (JIA) presented to the Children's National Medical Center for ophthalmologic assessment. Previous pertinent medical history included arthritis of the wrists, ankles, and fingers diagnosed at 8 months of age, a nodular truncal rash, which appeared at 11 months, and wrist enlargement, which developed at 16 months. At 2.5 years she developed right knee swelling with bilateral cystic swellings
Discussion
Blau syndrome (MIM 186580) is a rare an autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21, first reported in 1985.1, 2, 3 Previous cases have been reported as autosomal-dominant inheritance with variable penetrance.4 Fewer than 100 cases are known.3 Patients present first with an atypical JIA- or sarcoidosis-like disease with cystic swellings of the wrists, fingers, ankles, and elbows and red,
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Cited by (32)
Ocular involvement in monogenic autoinflammatory disease
2021, Autoimmunity ReviewsCitation Excerpt :Three patients had hepatosplenomegaly (9.4%) and 1 serositis (3.1%) [73]. Fifty-five studies described 238 patients with Blau syndrome (Table 2) [133–187]. The mean age at disease onset was 47.2 months and the mean age at ocular disease onset was 99 months.
First report of liver transplantation in Blau syndrome: The challenges faced in this rare granulomatous liver disease
2021, Transplant ImmunologyCitation Excerpt :In total, 84 patients with Blau syndrome had received antibody therapy. Analysis of the manifestations reported in each patient revealed that uveitis (46%), arthritis (28%) and dermatitis (13%) were the most common clinical manifestations treated with antibody therapy, with expanded manifestations making up 13% of reports [3,6–30] (Fig. 2). Five patients were noted to have hepatic manifestations.
Autoinflammatory diseases affecting bone and joints, and autoinflammatory interferonopathies
2020, Stiehm's Immune Deficiencies: Inborn Errors of ImmunityBlau syndrome with good Reponses to Tocilizumab: A case report and focused literature review
2018, Seminars in Arthritis and RheumatismCitation Excerpt :Infliximab was well tolerated in 8 patients [14–18], although one of them still had mild iritis [17], but it had no effect on the other 6 patients [3, 10–12, 19, 20]. Adalimumab was used in 9 patients, of whom 6 patients achieved remission [11, 12, 19–22], although one of them still had cutaneous eruption [20], while the symptoms of the other 3 patients didn’t get well controlled [15, 23, 24]. As for IL-1 inhibitors, Anakinra was only effective in one of the 3 BS patients [11, 24], and Canakinumab was useful in 2 BS patients without side effects [13, 23].
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome
2017, Journal of AAPOSCaveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis
2014, Autoimmunity ReviewsCitation Excerpt :TNF-α inhibition with the humanized IgG1 monoclonal anti-TNF-α antibody adalimumab has recently shown successful results in ocular and systemic involvement in a patient with EOS [101]. Further, the chimeric mouse-human anti-TNF-α monoclonal antibody infliximab (5–10 mg/kg every four–six weeks) has also led to successful results [59,82], though an infliximab-resistant patient has been reported [73]. On the other hand, the fusion protein of the TNF receptor and IgG1 Fc domain, etanercept, and adalimumab, have not been able to induce disease remission in several cases [106,107].
Research conducted at Children's National Medical Center.
Dr. L. K. Jung performs clinical trials for Pfizer, Abbott, Roche, and Norvartis.