Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Objectives: To characterize immunologic function and clinical characteristics in patients with chromosome 22q11.2 deletion syndrome and determine whether there was significant change over time. Methods: This study characterized the laboratory and clinical features of the immunodeficiency in a cohort of 195 patients with chromosome 22q11.2 deletion syndrome and used cross-sectional and analysis of variance to compare the findings in different age groups with control patients. Changes over time were also characterized by a model effect method in a subset of patients who were studied serially. Results: Diminished T cell counts in the peripheral blood are common in patients with chromosome 22q11.2 deletion syndrome. The pattern of changes seen with aging in normal control patients was also seen in patients with chromosome 22q11.2 deletion syndrome, although the decline in T cells was blunted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older patients, though they were seldom life threatening. Conclusions: Slow declines in T cell populations are seen in chromosome 22q11.2 deletion syndrome. Clinical manifestations of immunodeficiency, such as recurrent infection and autoimmune disease, were common in this population but had little relationship to specific immunologic laboratory features. (J Pediatr 2001;139:715–23)