Lymphoblastic Transformation in Ataxia Telangiectasia

Transformation of Blood Lymphocytes in Ataxia telangiectasia

“…Ataxia telangiectasia is a disease with defective immunologic mechanisms as shown by recurrent sinopulmonary infections [7,14,29,38,59,62]; by abnormal levels of immunoglobulins [1,2,15,18,22,24,26,27,28,29,38,39,41,48,56,59,60,61,62,63], particularly IgE which in most cases is deficient [2], and IgA which is usually absent [15,24,26,29,38,39,56,59,60] or decreased [18,27,28,32,38,39,48,59,62,63], although occasional normal [24,38,41] and even higher than normal levels...…”

“…Several investigators have demonstrated in recent years that blood lymphocytes from patients with ataxia telangiectasia show varying degrees of impairment in their in vitro transformation by phytohemagglutinin (PPHA), as compared to that of normal human blood lymphocytes [3,21,22,26,27,28,30,34,38,45,47,56], Most investi gators attribute this impairment to a defect of the lymphocytes [3,27,28,34,45], while others have presented evidence suggesting that, in addition to such a cellular defect, it may be in part due to a deficiency of a plasma factor [38,47]. In contrast, N aspitz et al [45] found no evidence for a deficiency of such a humoral factor.…”

DNA Synthesis in vitro in Leukocytes from Patients with Ataxia telangiectasia

“…The diseases include chronic lymphatic leukemia (3,6,8,31), Hodgkin's disease (4,5,7,31), sarcoidosis (4,32) and ataxia telangiectasia (9)(10)(11). Although these diseases present with different clinical symptoms and laboratory findings, they nevertheless share a common denominator in the diminished reactivity of the lympho cyte to PHA in vitro.…”

Chromosome Abnormalities in Neurological Diseases

“…Some authors [27,41] observed an increase of spontaneous chromosome breakage, whereas others [59,62] have re ported a normal chromosome constitution. Pfeiffer [58] found 2 of 6 pa tients had some cells with chromosome abnormalities but could not corre late these with the abnormal IgA globulin levels.…”