Patients with a spectrum of T-cell, B-cell, and phagocytic disorders were studied to correlate the specific immunodeficiency associated with autoantibody and autoimmune disease. Disorders investigated included X-linked hypo-γ-globulinemia, common variable onset hypo-γ-globulinemia, selective IgA deficiency, cellular immunodeficiency with abnormal immunoglobulin synthesis, Wiskott-Aldrich syndrome, ataxia-telangiectasia, chronic mucocutaneous candidiasis, severe combined immunodeficiency, chronic granulomatous disease, and female carriers of chronic granulomatous disease. Autoantibody was detected in all groups except X-linked hypo-γ-globulinemia. Clinical autoimmune disease was observed in patients with X-linked hypo-γ-globulinemia, common variable onset hypo-γ-globulinemia, selective IgA deficiency, Wiskott-Aldrich syndrome, chronic mucocutaneous candidiasis, chronic granulomatous disease, and female carriers of chronic granulomatous disease. No autoantibodies were found in only one immunodeficiency disorder, X-linked hypo-γ-globulinemia. Partial B-cell dysfunction, T-cell dysfunction, and phagocytic dysfunction predispose to autoantibody formation. Clinical autoimmune disorders were found in all types of immunodeficiency except severe combined immunodeficiency. Alternatively, patients with partial deficiencies of both B- and T-cell immunity may have regulator cell defects of helper versus suppressor cell populations which may result in enhanced autoantibody formation. It is of interest that two of the patients with cellular immunodeficiency and abnormal immunoglobulin synthesis who were initially negative for autoantibodies, developed positive autoantibodies after partial reconstruction of T-cell function following treatment with bovine thymosin fraction 5 and fetal thymus transplantation, suggesting that under certain circumstances, enhanced T-cell function may result in autoantibody formation. © 1979.
