Lymphoma despite metabolic reconstitution in adenosine deaminase deficiency-severe combined immunodeficiency

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Husain et al describe a child treated for adenosine deaminase (ADA) deficiency-severe combined immunodeficiency (SCID) with polyethylene glycol-adenosine deaminase (PEG-ADA) for more than 10 years. Although metabolic abnormalities and humoral immune responses were corrected, T-lymphocyte function never normalized, and declined over time. At 14 years of age, she developed Burkitt lymphoma.

Few patients with this rare disorder have been treated with PEG-ADA (because human leukocyte antigen [HLA]-identical sibling stem-cell transplant is preferred) for so long and have had immunologic function so carefully assessed longitudinally.

The development of Burkitt lymphoma following decline in T-lymphocyte function over time in this child provides the rare glimpse of an outcome that enlightens understanding of immunologic mechanisms in healthy hosts.