INTERMEDIATE UVEITIS IN COMMON VARIABLE IMMUNODEFICIENCY ASSOCIATED WITH A HETEROZYGOUS VARIANT IN THE TNFRSF13B GENE

The objective of this study was to report on a rare case of intermediate uveitis occurring in a patient with common variable immunodeficiency and a heterozygous TNFRSF13B variant.

This was an observational case report.

A 23-year-old man presented with a 3-month history of increasing floaters and blurred vision to both eyes. He had been treated with topical and intravitreal corticosteroids by his local ophthalmologist 9 months before. Ocular examination demonstrated bilateral intermediate uveitis with retinal vasculitis. He had been treated with IV immunoglobulins during childhood because of primary humoral immunodeficiency. Systemic workup for other causes of intermediate uveitis was unremarkable, and notably, no features of systemic sarcoid-like disease were detected. Initial treatment with mycophenolate mofetil showed insufficient response, and upon switching to adalimumab, clinical remission was achieved. Immunocytometry and genetic workup revealed a smB+CD21 norm subtype of common variable immunodeficiency and a heterozygous TNFRSF13B variant.

This report of common variable immunodeficiency-associated intermediate uveitis in a patient with a heterozygous TNFRSF13B variant highlights the potential involvement of the eye within common variable immunodeficiency-associated autoimmunity and the role for anti-tumor necrosis factor (TNF) blockade in this challenging group of patients.