[Ataxia telangectasia. Probability of damaging immune mechanisms]

Twelve patients suffering from ataxia telangiectasia and relatives of three of them were studied. A late diagnosis prevailed and the neurological symptoms in some turned worse after suffering recognizable viral infections. The cellular and humoral immunodeficiencies were evaluated in each case as well as the simultaneous presence of hyperimmunoglobulinemia and/or auto-antibodies. Among the relatives, there were frequent cases of immunological and neoplastic alterations; cellular immunodeficiency was not detected. Five cases showed lung disease; four with absence of IgA, and histologic interstitial lesion detected in three of them. The hypothesis that the defect of cell immunity predisposes mulisysthemic disease and that an early diagnosis with immune reconstructive treatment can modify the evolution of the disease was considered.