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 in vitro production of interferon-alpha and -gamma (IFN) by peripheral blood mononuclear cells from four patients with ataxia-telangiectasia was compared to that of healthy controls. Normal values of IFN-alpha were obtained in all cases. However, patients with ataxia-telangiectasia showed a great reduction or absence of IFN-gamma production after induction with either staphylococcal enterotoxin B or galactose oxidase. This defect was accompanied by the absence of secretion of another lymphokine, namely, interleukin 2 (IL-2), in one case. Lymphoproliferative response to phytohemagglutinin (PHA) was severely depressed in all patients. Near normal values of T lymphocytes were found, but the ratio of OKT4+/OKT8+ subsets was reduced in most patients, due to a decrease of OKT4+ lymphocytes. Deficiency of IFN-gamma may contribute to the abnormalities of immune functions and immunoregulation observed in ataxia-telangiectasia, and it may represent an additional cause of the high incidence of viral infections and neoplasia in this disease.
Clin Immunol Immunopathol 1984 Sep
PMID:Defective interferon-gamma production in ataxia-telangiectasia. 643 89

Classic neurofibromatosis, tuberous sclerosis, and ataxia-telangiectasia can affect the chest and respiratory system. These diseases are reviewed with particular emphasis on their thoracic and radiographic manifestations.
Radiol Clin North Am 1984 Sep
PMID:Thoracic manifestations of neurocutaneous diseases. 643 1

The first case of ataxia-telangiectasia (AT) with dysgerminoma of the right ovary, papillary carcinoma of the thyroid, and adenocarcinoma of the pancreas is reported. There is the characteristic trend of the occurrence of the malignant neoplasms in AT. Lymphoreticular neoplasms and leukemia are most frequently seen in the younger patients with AT. On the other hand, epithelial malignant neoplasms are frequently seen in the longer survivors with AT. Literature also shows that nucleomegaly is due to precocious or abnormal aging.
Cancer 1984 Sep 15
PMID:Ataxia-telangiectasia with dysgerminoma of right ovary, papillary carcinoma of thyroid, and adenocarcinoma of pancreas. 646 38

The primary IgG, IgM and IgA antibody responses to Helix pommatia haemocyanin (HPH) were defective in patients with ataxia telangiectasia (AT) and Nijmegen breakage syndrome (NBS). The results in patients with Bloom's syndrome (BS) were heterogeneous, but all showed abnormal kinetics of the IgG response. The secondary response to diphtheria, tetanus and polio vaccine was normal in patients with AT and BS, but disturbed in the patients with NBS. The abnormalities of antibody response of AT and NBS are similar, although more profound in NBS; BS is different.
Clin Exp Immunol 1984 Sep
PMID:Antibody responses in vivo in chromosome instability syndromes with immunodeficiency. 646 78

The effects of 45 degrees C hyperthermia and gamma radiation have been studied in three normal human fibroblast lines (GM38, GM730, WI38) and compared to the effects in two lines derived from patients with the hereditary disease ataxia telangiectasia (AT3BI, AT5BI). All lines, both normal and gamma-sensitive AT, showed a similar resistance to killing by heat alone, suggesting that the defect responsible for the increased radiation sensitivity in AT lines does not confer increased heat sensitivity. Shouldered survival curves were obtained in each case indicating the ability to accumulate sublethal heat damage. All normal and AT cell lines exhibited increased resistance to the lethal effects of heat in response to a thermal stress, indicating that the defect that causes radiosensitivity in AT cell lines does not prevent the induction of thermotolerance. Heat (45 degrees C, 30 min) was shown to increase the sensitivity of the normal cell lines to killing by gamma radiation. The thermal enhancement ratios obtained ranged from about 2.5 to 3.0. The same heat treatment, however, produced very little increase in the radiation sensitivity of the AT cells. Thermal enhancement ratios of about 1.2 were obtained in these lines. We hypothesize that, in normal cells, this heat treatment inactivates the process which is already defective in AT lines, and that this process may be required for the proper rejoining of double-strand breaks produced during the repair of other radiation-induced lesions.
Radiat Res 1984 Sep
PMID:The effects of hyperthermia and ionizing radiation in normal and ataxia telangiectasia human fibroblast lines. 647 16

Lymphocyte and neutrophil locomotion were studied in 23 patients with well defined, primary immunodeficiencies. These included eight patients with common variable immune deficiency, three patients with X-linked agammaglobulinaemia, two patients with the Wiskott-Aldrich syndrome, three patients with ataxia telangiectasia, three patients with immunodeficiency and normal serum immunoglobulin concentrations, one patient with immune deficiency and hyper-IgM syndrome, two patients with Job syndrome and one patient with a granulocyte adherence defect. Random and stimulated lymphocyte and neutrophil migration were evaluated. C5a and casein were used to stimulate lymphocyte migration and C5a and formyl-methionyl-leucyl-phenylalanine (f-MLP) were used to stimulate neutrophil migration. Significantly depressed lymphocyte migration in response to casein and C5a was observed in patients with common variable immune deficiency, patients with immune deficiency and normal immunoglobulin concentration, and patients with Job syndrome. No consistent defect in lymphocyte locomotion was observed in the other patients studied. Neutrophil migration in response to C5a and f-MLP was depressed in Job syndrome, the patient with a granulocyte adherence defect, one of the six patients with common variable immune deficiency and none of the remaining patients. No significant correlation of skin test reactivity and lymphocyte migration was noted, but a correlation between the degree of lymphocyte proliferation in response to phytohaemagglutinin and lymphocyte migration in response to casein was observed. The results presented indicate that aberrations in lymphocyte migration occur in several types of immunodeficiency diseases and that defects in lymphocyte and neutrophil migration can occur simultaneously or totally independent of each other.
Clin Exp Immunol 1983 Sep
PMID:Abnormalities of lymphocyte locomotion in immunodeficiency disease. 661 60

This paper referred to primary immunodeficiency diseases (PID)-malignancy association in autopsy cases in Japan. The occurrence of malignant neoplasms almost centered upon ataxia-telangiectasia among PID in Japan. It seems to be due to extremely shorter life span in Japanese patients with PID except for in those with ataxia-telangiectasia, compared with that in European and American patients. Most of the malignant neoplasms seen in Japanese patients with PID were epithelial and were seen mostly in older patients, while lymphoreticular tumors were rare. Gastric cancer was the most frequent of the epithelial tumors.
Acta Pathol Jpn 1983 Sep
PMID:Immunodeficiency-malignancy association at autopsy in Japan. 665 Jan 70

3-Aminobenzamide (3-AB), an inhibitor of poly(ADP-ribosylation), is lethal to human fibroblasts with damaged DNA. Its cytotoxicity was determined relative to a number of factors including the types of lesions, the kinetics of repair, and the availability of alternative repair systems. A variety of alkylating agents, UV or gamma irradiation, or antimetabolites were used to create DNA lesions. 3-AB enhanced lethality with monofunctional alkylating agents only. Within this class of compounds, methylmethanesulfonate (MMS) treatments made cells more sensitive to 3-AB than did treatment with methylnitrosourea (MNU) or methylnitronitrosoguanidine (MNNG). 3-AB interfered with a dynamic repair process lasting several days, since human fibroblasts remained sensitive to 3-AB for 36-48 hours following MMS treatment. During this same interval, 3-AB caused these cells to arrest in G2 phase. Alkaline elution analysis also revealed that this slow repair was delayed further by 3-AB. Human mutant cells defective in DNA repair differed in their responses to 3-AB. Among mutants sensitive to monofunctional alkylating agents, ataxia telangiectasia cells were slightly more sensitive to 3-AB than control cells, while Huntington's disease cells had a near-normal response. Among UV-sensitive strains, xeroderma pigmentosum variant (XPV) cells were more sensitive to 3-AB after MMS than were XP complementation group A (A) cells, which responded normally. Greater lethality with 3-AB could be dependent on inability of the mutant cells to repair damage by other processes.
J Cell Physiol 1984 Sep
PMID:Factors modifying 3-aminobenzamide cytotoxicity in normal and repair-deficient human fibroblasts. 674 52

Stage I lymphocyte-predominant Hodgkin's disease was diagnosed in a 44-month-old girl. Although immune deficiency was suspected and IgA deficiency demonstrated, the diagnosis of an ataxia-telangiectasia (AT)-like syndrome was not confirmed until eight weeks later when results of studies on the radiosensitivity of cultured skin fibroblasts were available. The child had none of the usual physical stigmata of AT. Severe acute radiation damage followed the treatment of this child with standard doses of radiation therapy. Clinical, pathologic, and radiobiologic correlations are drawn. The diagnosis of a malignant lymphoma disorder in children under the age of five should alert clinicians to the possibility of immune deficiency and, even in the absence of classical physical signs, to AT in particular. Suggestions for the management of future similar cases are put forward.
Cancer 1982 Sep 01
PMID:The effects of radiation therapy for Hodgkin's disease in a child with ataxia telangiectasia: a clinical, biological and pathologic study. 709 26

Clinical history and morbid anatomy findings of a new case of ataxia-telangiectasia are reported. A 26 years old man, with overt signs of the disease since the age of 8, died for decompensated cirrhosis; in the last year he suffered for cerebral haemorrhage; post-mortem examination showed venous angiectasias in cerebral white matter that caused two macroscopical areas of haemorrhagic infarction and multiple pin-pointed haemorrhages. We suggest that longer survival of patients with A.T., due to better management of infectious complications, permits the appearance of vascular abnormality not only in skin and mucosae, but also in deep organs, generally protected from environmental damages.
Minerva Med 1982 Sep 08
PMID:[Ataxia telangiectasia. Description of a case with multiple cerebral hemorrhages and liver cirrhosis]. 711 Jun


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