Syndrome With Profound Immunodeficiency

The chromosomal breakage syndromes-ataxia-telangiectasia, Fanconi’s anemia, and Bloom’s syndrome-are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21 -year-old female with more severe chromosomal breakage, immunodeficiency. and growth failure than in any of the mentioned disorders. As of November 1 985. the patient remains clinically free of malignancy. At age 18, the patient’s weight was 22.6 kg (50th percentile for seven years), height was 1 29 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/giL with 32% T11 cells, 1 7% T4 cells, and 21 % T5 cells. The proliferative responses to phytohemagglutinin (PHA). pokeweed mitogen, and concanavalin A were less than 1 0% of control. There were 1 % surface 1gM