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

Objectives: To characterize immunologic function and clinical characteristi cs in patients with chromosome 22q 11.2 deletion syndrome and determine whe ther there was significant change over time. Methods: This study characterized the laboratory and clinical features of t he immunodeficiency in a cohort of 196 patients with chromosome 22q 11.2 de letion syndrome and used cross-sectional and analysis of variance to compar e the findings in different age groups with control patients. Changes over time were also characterized by a model effect method in a subset of patien ts who were studied serially. Results: Diminished T cell counts in the peripheral blood are common in pat ients with chromosome 22q 11.2 deletion syndrome. The pattern of changes se en with aging in normal control patients was also seen in patients with chr omosome 22q 11.2 deletion syndrome, although the decline in T cells was blu nted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older pa tients, though they were seldom life threatening. Conclusions: Slow declines in T cell populations are seen in chromosome 22q 11.2 deletion syndrome. Clinical manifestations of immunodeficiency, such as recurrent infection and autoimmune disease, were common in this populati on but had little relationship to specific immunologic laboratory features.