Follow-up studies of immunological disorders in patients with ataxia-telangiectasia

Abstract

We were able to evaluate immunological function of 6 patients with ataxia-telangiectasia (AT) and follow up for long periods. Six cases were diagnosed and studied between 2 to 10 years of age for the first time. At the time of report, 10 to 20 years of age, 4 patients are alive.1) A 7-year-old female had severe defect in both humoral and cellular immunity and died following serious sinopulmonary tract infection at age 10.2) Her 2-year-old male sib, who had mild cellular immune deficiency, developed T cell ALL at age 10. One month before the time when the ALL blasts had appeared in his peripheral blood flow, his cellular immune deficiency was more remarkable.3) Ten and 9 years old female sib had no immunological abnormality at the time of diagnosis. However, elder sister died at 20 years old following a intractable pneumonia for period of 18 months. And evaluation of her immune function at 19 years old showed marked cellular immune deficiency and almost normal humoral immunity.4) Eleven and 7 years old male sib showed IgA and IgE defect without cellular immune deficiency. Elder brother had recurrent pulmonary infection and showed bronchiectasia on chest X-ray.5) Three out of 6 cases alive at the time of this report without malignancy, who are 20, 19 and 16 years of age, had no obvious deficiency of cellular immunity early in the course. However, as they grew older, recurrent infection appeared and cerebellar ataxia progressed, and deficiencies of cellular immunity became more remarkable.The immunological defects in AT were reported to vary from patient to patient, and in each patient with respect to age. Our present data showed the heterogeneity of AT in view of immunodeficiency. The critical period when the serious defects in cellular immunity occur vary from patient to patient, i. e., some have immune defect at early age, the other have late at adolescent age.Serious defects in cellular immunity in AT is closely related to susceptibility to lethally pulmonary infection and occurrence of lymphoreticular malignancies. Therefore, precise immunological follow up studies of this disease are needed. In vitro lymphocyte DNA synthesis stimulated with PHA and/or PWM was found to be reliable method monitoring the defect in cellular immunity.