Study on the mechanism of autoimmunity and malignancy developed in primary immunodeficiency

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We studied on the mechanism of autoimmunity and malignancy frequently observed in patients with primary immunodeficiency (PID). Patients with impaired DNA damage response such as ataxia telangiectasia (AT) and Mre11 deficiency showed chromosomal abnormality caused by defect in DNA damage processing. AT patients showed defective T-cell development as well. T-cell anergy was not properly executed in lymphocytes from ICOS deficiency showing autoimmunity. Skewed TCR V repertoire usage was observed in ～50% of CVID patients. These findings suggest the presence of various mechanism underling autoimmune disorder and malignancy in PID patients.