Abstract

<h3>Introduction</h3> Kabuki syndrome (KS) is a rare genetic disorder characterized by congenital abnormalities, autoimmunity, intellectual disability, distinctive facial abnormalities, and hypogammaglobulinemia. <h3>Case Description</h3> A 24-year-old male with KS and hypogammaglobulinemia presented to the emergency department (ED) with lower back pain and extremity paralysis. His previous genetic diagnosis of KS had a heterozygous novel variant causing a premature translational stop signal p.Pro235Alafs*6 in the KMT2D gene. The patient also has a history of congenital heart disease, autoimmune cytopenias, and longstanding hypogammaglobulinemia on/off replacement immunoglobulin with baseline IgG 300-400 mg/dL, low IgA 10-20 mg/dL, normal IgM 50-60 mg/dL, normal lymphocyte subsets, and absent protein and polysaccharide vaccine responses consistent with common variable immunodeficiency. On arrival at the ED, spinal imaging revealed a compression fracture and underlying mass. Right-axillary and bone marrow biopsies confirmed Burkitt lymphoma. He was treated with chemotherapy, radiation, and replacement immunoglobulin. He has suffered from pneumonia, adenovirus, ileus<b>,</b> heart failure, and stroke. Routine immunologic testing performed at time of diagnosis revealed normal complete blood cell count, mild transaminitis from baseline (AST/ALT 61/71 U/L), baseline immunoglobulins, and normal lymphocyte subsets. <h3>Discussion</h3> While KS is a well-known cause of hypogammaglobulinemia, the authors have identified only two other published cases of Burkitt lymphoma in KS. This case emphasizes the importance of oncological screening and that routine immunologic testing of lymphocyte subsets and immunoglobulins may not have abnormalities from baseline in patients with active lymphoma. A mild transaminitis, however, might be concerning for malignancy in these patients.

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