An uncommon association of antiphospholipid syndrome, selective IgA deficiency and resistant-to-treatment relapsing polychondritis: efficacy of Infliximab

Background: Autoimmune complications in the context of primary immunodeficiency diseases represent a well-known phenomenon, and this is widely recognized also for Selective Immunoglobulin A deficiency (IgAD), the most common primary antibody deficiency (PAD). Relapsing polychondritis (RP) is a rare immune-mediated, difficult to treat, disorder in which the cartilaginous tissues are the target for inflammation and damage. Ocular inflammatory manifestations in RP are frequent and often sight-threatening. Antiphospholipid syndrome (APS) is an acquired prothrombotic state related to circulating autoantibodies against phospholipids and/or their cofactors. Rare reports of APS associated to RP, PAD and APS or PAD and RP are available. Case Report: We describe the occurrence of APS and resistant-to-treatment RP with uveitis, in a patient affected by IgAD. We successfully treated the patient with infliximab, an anti-TNF-α agent, after failure of corticosteroids and cyclophosphamide. Conclusion: The novel association of IgAD, APS and RP is here reported, indicating the occurrence of abnormal immune regulation together with immunodeficiency, which may result in clustering of autoimmune diseases. The efficacy of Infliximab in the context of recalcitrant RP with hypertensive uveitis in this complex patient is here described.