Abstract
Abstract Common Variable Immunodeficiency (CVID) is a disorder of B cells, with hypogammaglobulinemia and an impaired immune response leading to increased risk of infection, autoimmune complications, and risk of malignancy. A 17-year-old, previously healthy male presented with three months of pruritus, jaundice and transaminitis. Imaging and biopsy showed liver heterogeneity without evidence of cholestasis or ductal dilation. Over time, imaging was consistent with primary sclerosing cholangitis (PSC). The patient eventually required liver transplant after several complications, despite stent therapy. Explant liver pathology revealed diffuse large B cell and follicular lymphoma, grade 3A with mature monoclonal B cells follicular in origin, negative for MYC rearrangement and MUM1. PCR detected IgH and IgK B cell clonality. He received chemotherapy without complication, for primary hepatic non-Hodgkin's lymphoma. Continued flatulence and diarrhea prompted endoscopy, revealing eosinophilic esophagitis. Due to his variable pathology, he was evaluated for a primary immunodeficiency. His labs demonstrated globally diminished immunoglobulins, a low Hib titer and one pathogenic mutation in TNFRSF13B (c.542C>A; p.Ala181Glu), a transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI). Thus, the patient was diagnosed with CVID. This case highlights a unique presentation of CVID from demonstration of PSC and primary hepatic diffuse large B cell lymphoma. Consideration of immunodeficiencies early on in challenging cases of autoimmune and unique oncologic diagnoses may lead to earlier treatment of underlying conditions and prevention of future complications.