Immunologic Deficiency in Ataxia Telangiectasia

Immunoglobulin metabolism in ataxia telangiectasia

“…Ataxia telangiectasia is of considerable interest in this connection since it has been associated with IgA deficiency and other immunologic abnormalities (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11).…”

“…Associated clinical findings in some patients have been recurrent sinopulmonary infection (1,5,6) and reticuloendothelial neoplasm (2,12). Immunologic defects have been reported in many patients.…”

“…Immunologic defects have been reported in many patients. These defects include: (a) delayed skin homograft rejection and decreased response to tuberculin-type skin antigens (2,4,10); (b) decreased circulating antibody response to antigenic stimulation (2,9); (c) lymphocytopenia with abnormal lymph node architecture (2,4,6,8); (d) thymic abnormalities including both absence of thymus and histologically abnormal thymus (2,5); and (e) a somewhat heterogeneous dysgammaglobulinemia (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11).…”

“…Normal persons produce three major classes of immunoglobulins: IgG (Y2, yss), IgA (y1A, ,82A), and IgM (,82M, yM). In patients with ataxia telangiectasia who were studied to determine immunoglobulin levels (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11), 43 of 58 showed marked reduction -or absence of IgA, whereas in 1 of 58 there was an increased IgA level, and in 14 of 58, normal levels were present. In the deficient or absent IgA group, three patients had an associated IgG deficiency (2), and five others had borderline IgG decreases (2,6); in addition, marginal increases in IgG levels have been seen (6).…”

“…In patients with ataxia telangiectasia who were studied to determine immunoglobulin levels (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11), 43 of 58 showed marked reduction -or absence of IgA, whereas in 1 of 58 there was an increased IgA level, and in 14 of 58, normal levels were present. In the deficient or absent IgA group, three patients had an associated IgG deficiency (2), and five others had borderline IgG decreases (2,6); in addition, marginal increases in IgG levels have been seen (6). Also within this group, at least 10 instances of increased IgM (2,3,6,7) and two instances of decreased IgM levels have been recorded (2,8).…”