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Immune Signature Variation in Twins With Clinically Different Recurrent Respiratory Papillomatosis

INTRODUCTION Juvenile recurrent respiratory papillomatosis (JRRP) is a human papillomavirus (HPV)-mediated disease that causes benign yet potentially life-threatening obstructive lesions of the upper airway. JRRP is believed to be passed via vertical transmission from an HPVaffected mother to the newborn child during vaginal birth. There is a large variation in the clinical aggressiveness of disease, with some patients achieving control with limited intervention and others who require multiple surgeries (>10) and still develop distal (lower trachea, mainstem bronchi) disease. Host genetic susceptibility and variation in the viral genome itself have been implicated as reasons for this clinical variability. Here, we present the case of dizygotic twins who present with vastly different clinical manifestation of JRRP. Gene expression analysis of the peripheral blood mononuclear cells (PBMCs) in these patients revealed differential immune cell signatures, including an enhanced regulatory T cell (Treg) signature in the affected twin.