Diagnostic considerations in ataxia - telangiectasia JANINE

Boder and Sedgwick (1957) presented the first thorough review of ataxia-telangiectasia (A-T) and stressed the prevalence of sinopulmonary symptoms. The incidence of pulmonary complications was considered sufficiently significant to include them as part of the syndrome-ataxia, oculocutaneous telangiectasia, and recurrent sinopulmonary infections. Since then, reports have shown that sinopulmonary infections occur in 45 to 81 % of cases (Boder and Sedgwick, 1958, 1963; Peterson et al., 1964; McFarlin et al., 1972; Polmar et al., 1972). Search for the possible cause or causes of this increased incidence of infection in A-T led to a series of articles describing a variety of immunological abnormalities including lymphopenia, decreased lymphoid tissue (Eisen et al., 1965), significant deficiency or absence of IgA (Fireman et al., 1964; Eisen et al., 1965; Epstein et al., 1966; McFarlin et al., 1972; Polmar et al., 1972; Kiran et al., 1974), IgE deficiency (Ammann et al., 1969; McFarlin et al., 1972; Polmar et al., 1972), presence of low molecular weight IgM (McFarlin et al., 1972), decreased delayed hypersensitivity reactions (Eisen et al., 1965; Epstein et al., 1966), decreased Erosetting and PHA responses (McFarlin and Oppenheim, 1969; McFarlin et al., 1972; Kiran et al., 1974), and variable failure of thymic development (Peterson et al., 1964; Eisen et al., 1965; McFarlin et al., 1972). Unfortunately, there has been no direct correlation between the incidence of any of these defects and the occurrence of sinopulmonary problems.