Immunodeficiency, Leukemia, and Lymphoma

Leukemias and lymphomas are the dominant malignancies in childhood, comprising over one third of all pediatric cancer cases. They are also prevalent in adulthood, each being among the ten most common cancer types. Inherited immunodeficiencies and immune dysregulatory syndromes, on the other hand, are quite rare, with nearly all of these conditions affecting few patients. Due to their rarity, they are undoubtedly under-recognized, and many have only recently been described, further complicating their diagnosis. Nonetheless, it is increasingly evident that many of the same genetic lesions that cause immune dysfunction also carry predilection to developing specific, or in some cases several, types of hematologic cancer. This chapter briefly summarizes the molecular and cellular pathophysiology and clinical features for many of these entities, including the leukemias and lymphomas associated with them. A table consisting of several additional immunodeficiency syndromes linked to hematologic malignancies is provided at its conclusion.