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To report a case of corneal ulcers in a patient with NOD2 mutations unique to but phenotypically resembling well-characterized syndromic phenotypes like Blau syndrome. A 25-year-old female with a medical history of type I diabetes mellitus, Asperger syndrome, and neuropathy presented with bilateral corneal ulcers. Her visual acuity was 20/200 OU. Macular edema was identified OS, and posterior synechiae OS suggested a history of anterior uveitis. Genetic testing confirmed NOD2 mutations, and her tear film was positive for matrix metallopeptidase 9. Recent intravenous immunoglobulin therapy improved her neuropathy, and an aggressive regimen of erythromycin ointment and lubrication has improved her ophthalmic symptoms. This case advances our understanding of NOD2's role in regulating inflammatory processes of the eye. In addition to precipitating uveitis, patients with these mutations may also be at increased risk of developing corneal pathology related to their reduced capacity to moderate inflammatory processes. [ABSTRACT FROM AUTHOR]

Premature, accelerated onset of atherothrombotic disease is prevalent in patients with systemic lupus erythematosus (SLE). Most, if not all, atherothrombotic diseases are likely to involve platelets and complement. Previously, we discovered that platelets bearing complement activation product C4d (P-C4d) are present in SLE patients, and are significantly associated with antiphospholipid (aPL) antibody positivity and stroke in SLE patients. The goal of the present study was to further elucidate the role of aPL and other platelet-reactive autoantibodies in the generation of P-C4d. To determine the association between P-C4d and aPL antibodies, the serum levels of aPL antibodies and P-C4d of 180 SLE patients were measured by enzyme-linked immunoassays and flow cytometry, respectively. To investigate the role of aPL antibodies, and possibly other autoantibodies as well, in mediating the generation of P-C4d, in vitro 2-step P-C4d induction experiments were performed. The results showed that the presence and levels of aPL antibodies in the serum were specifically elevated in SLE patients with positive P-C4d. The plasma and immunoglobulins purified from SLE patients who were positive for P-C4d and aPL were capable of inducing C4d deposition on normal platelets in vitro. The capacity of SLE plasma in inducing P-C4d appeared to correlate proportionately to the serum aPL levels. Collectively, the results demonstrate that both aPL and other platelet-reactive autoantibodies may participate in mediating the generation of P-C4d in SLE patients. [ABSTRACT FROM AUTHOR]