Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The reproducibility of a simplified, sensitive and rapid agarose-cell droplet assay for leucocyte migration inhibition factor (LIF) activity was studied. Removal of T cells with anti-T-cell serum eliminated LIF activity, indicating that in humans it is probably the T cell that produces LIF. Cord blood lymphocytes produce LIF, although spontaneous migration of leucocytes is less than in older children. The cause of this apparently does not reside in the PMN leucocytes. Studies of children with immunodeficiency suggest that the T-cell population in humans is heterogenous. B-cell deficiencies such as hypogammaglobulinaemia, have normal PPD and PHA induced LIF production, whilst some patients with ataxia-telangiectasia have defective PPD LIF activity, their PHA LIF activity being only minimally depressed. On the other hand, Down's syndrome patients with reduced blood T cells have remarkably deficient LIF activity to PHA and relatively good activity to PPD. Children receiving steroid therapy lose much of their ability to produce LIF to the specific antigen PPD, but not to the non-specific mitogen PHA.
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PMID:Leucocyte migration inhibition factor (LIF) production by lymphocytes of normal children, newborns, and children with immune deficiency. 13 10

The clinical and immunological findings of 160 patients diagnosed over a period of twenty years as having ataxia-telangiectasia (AT) are presented. The study group composed of 68 females and 92 males were members of 117 families. The rate of parental consanguinity was 65 percent. The incidence of AT in 117 families was 36.6 percent. All patients had the characteristic facial and postural features of AT. The mean duration of follow-up of 160 patients was 6.35 years. Fifty patients had died during the follow-up (36 of pulmonary infections, 14 of malignancies). Somatic growth retardation was a prominent feature. Recurrent sinopulmonary infections were detected in 66 percent of patients. Two patients had hypothyroidism, one had diabetes mellitus, and one had both conditions. The incidence of malignancies was found to be 2.3 percent in the immediate relatives of the patients. The total lymphocyte count was low in 57 percent, and skin tests to PHA, candida, PPD and SK-SD were negative in 17.7%, 72.6%, 43.6%, and 78.2% of patients, respectively. In vitro blastogenic response to PHA was low in 61 percent of patients. The mean value of E-rosette formation was significantly lower than control values. Six patients had low serum IgG levels. The serum IgM level was high in 26.6 percent of patients and the IgA level was low or absent in 51.3 percent. There was no correlation between immune disturbance and duration of illness.
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PMID:Twenty-year follow-up of 160 patients with ataxia-telangiectasia. 181 37

Two brothers with ataxia-telangiectasia and recurrent respiratory tract infections are presented. Immunological investigations showed normal immunoglobulin levels (except for the absence of IgA in one child) with absence of haemagglutination inhibiting antibody response to inactivated influenza virus vaccine, normal total lymphocyte counts with decreased T cell numbers, absence of delayed hypersensitivity skin reaction to PPD, in vitro unresponsiveness of T lymphocytes to PHA with presence of a serum inhibitor able to depress normal lymphocyte transformation, and normal phagocytosis and killing of Staph. aureus by peripheral blood polymorphonuclear leucocytes. Complete complement screening revealed a non-functioning alternative pathway in both brothers. The presence of normal factor B lytic activity after isoelectrofocusing the serum and inhibition of the lytic activity of purified components with the patients' serum raised the possibility of a serum inhibitor. The nature of this was not elucidated but it may be one of the reasons why patients with ataxia-telangiectasia have an increased incidence of infections.
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PMID:Defective activation of the alternative pathway of complement in two brothers with ataxia-telangiectasia. 733 83