Neurologic autoimmunity in the immunodeficient: A case of neuromyelitis optica in an individual with common variable immunodeficiency

Background

Neuromyelitis optica (NMO) is a relapsing CNS autoimmune disorder most commonly characterized by longitudinally extensive transverse myelitis (LETM) and/or optic neuritis (ON). Common variable immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency, characterized by immune dysregulation and decreased immunoglobulin production. Autoimmunity is common in CVID, however neurologic autoimmunity is exceedingly rare and co-occurrence with NMO has not been previously described. We present the case of a man in his 60′s with CVID who developed LETM and was subsequently diagnosed with Aquaporin (AQP) 4 Immunoglobulin G (IgG) seropositive NMO.

Methods

Chart review of a patient treated at the University of Washington.

Results

Our patient had been treated with intravenous immunoglobulin therapy for CVID for 5 years when he presented with subacute onset of ascending paraparesis, sensory loss, and urinary retention. MRI identified LETM from C3 to T9. AQP4 IgG was markedly elevated at a titer of >1:100,000. He responded well to immunotherapy.

Conclusion

Autoimmunity in CVID is thought to be from loss of regulatory T cell function as well as increased peripheral plasmablasts. We highlight the importance of considering autoimmune CNS diseases in primary immunodeficiencies as well as review possible pathophysiology of neurologic autoimmunity in CVID.