1/8. Cutaneous granulomatous lesions in patients with ataxia-telangiectasia.Ataxia-telangiectasia is a genetic syndrome with progressive cerebellar ataxia, oculocutaneous telangiectasias and other skin manifestations, variable immune system defects, chronic progressive sinopulmonary disease, and a high incidence of cancer. Cutaneous granulomas developed and persisted in eight patients with ataxia-telangiectasia, despite treatment with intravenously administered immune globulin, topical antibiotic therapy, and potent topical corticosteroid therapy. We were unable to identify an infectious agent; the granulomas may develop in an attempt to localize antigen in the presence of a dysfunctional immune system.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/8. Ataxia-telangiectasia or Louis-Bar syndrome.Ataxia-telangiectasia (A-T) is a clinical syndrome that commonly shows oculocutaneous telangiectasia, progressive cerebellar ataxia, recurrent sinopulmonary infections, increased incidence of malignancy, x-ray hypersensitivity, and autosomal recessive inheritance. Profound dysfunction of both humoral and cell-mediated immune systems is demonstrated by low IgA levels, an immature thymus, a poor response to antigenic challenges, and recurrent infections. The high risk of malignancy may be related to poor immune surveillance. Two cases (sisters) are reported demonstrating the typical features of the disease along with the results of a trial of the immunopotentiating drug, levamisole, in one of them. The features of A-T are reviewed and include the more recent findings of elevated serum carcinofetal proteins and chromosomal aberrations.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
3/8. Chronic T cell leukemia with unusual cellular characteristics in ataxia telangiectasia.A 27-year-old male patient with ataxia telangiectasia (AT) developed atypical chronic lymphocytic leukemia with increasing bone marrow infiltration in the absence of organomegaly. One-third of the leukemia cells expressed a mature suppressor/cytotoxic T cell phenotype (T3 T4- T6- T8 T10-), two-thirds demonstrated additional helper/inducer T cell-associated antigens (T3 T4 T6- T8 T10-), and a small fraction reacted with a natural killer (NK) cell-specific monoclonal antibody (Leu 11 ). The proliferative response to stimulation in vitro with lectins and various monoclonal antibodies resembled the proliferation pattern of mature thymocytes: The cells responded to phytohemagglutinin (PHA), concanavalin a (ConA), stimulation of the T3-Ti receptor complex with sepharose-bound anti-T3, and stimulation of the sheep erythrocyte receptor protein with anti-T11(2) and anti-T11(3) in conjunction with exogenous interleukin-2 (IL 2); they failed, however, to proliferate after stimulation with anti-T11(2) and anti-T11(3) alone. There was no response in the mixed lymphocyte reaction (MLR) and no suppression of the MLR between two healthy donors. Antibody-dependent cell-mediated cytotoxicity and NK activity could not be demonstrated. cytogenetic analysis revealed complex clonal aberrations, including an interstitial deletion of the long arm of chromosome 14 concerning bands q21-31, loss of chromosome 20, and loss of the y chromosome. Cytostatic chemotherapy was of little use and caused serious side effects, whereas leukapheresis proved effective in reducing the tumor load. The clinical data and laboratory findings in this case correspond to three previously described patients with AT who developed chronic T cell leukemia. Thus, in adult patients with AT, malignant proliferation of cytogenetically marked and phenotypically heterogeneous mature T cells seems to be a frequent complication.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/8. ataxia telangiectasia in Chinese children. A clinical and electrophysiological study.The clinical manifestations, immunological, chromosomal, and multimodal electrophysiological studies of five Chinese patients with ataxia telangiectasia are described. One died of hepatocellular carcinoma not associated with hepatitis b-antigenaemia. Another died of respiratory failure. Two siblings are free of sinopulmonary infections although they are wheelchair bound. Computed tomography of the brain showed cerebellar atrophy in four cases. Nerve conduction studies showed evidence of axonal neuropathy in all cases with the earliest detection at six years. electromyography showed mild denervation changes in two cases. Two patients had abnormal somatosensory evoked potentials and one had abnormal visual and brain stem auditory evoked potentials. The level of alpha foetal protein was elevated whereas the serum carcino-embryonic antigen was normal in all patients.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
5/8. Improvement of cellular immunity and IgA production in immunodeficient children after treatment with synthetic serum thymic factor (FTS).Three children with IgA and IgE deficiency and T-cell defects (two related patients with ataxia telangiectasia and one with common variable immune deficiency) were treated with synthetic serum thymic factor (FTS) intravenously. A reduction in frequency and severity of infection was noted concomitantly with improvement in cell-mediated-immunity tests. serum IgA, which was absent in two patients, appeared within 4 weeks of treatment and increased significantly in the third patient. Specific antibodies against vaccination antigens appeared for the first time or increased to titres higher than ever before. In two patients, transient interruption of FTS administration was followed by a regression of the immunological improvement, but this disappeared after the treatment was started again.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
6/8. An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant.We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent. There were neither frequent infections nor immunodeficiencies. The two youngest patients exhibited an incapacitating myoclonus which abated markedly after 20 years. Late onset diabetes was demonstrated in 3 patients. hypogonadism was not a feature and there was a prolonged survival in the 4 patients. The oldest sibling died of a pancreatic adenocarcinoma. alpha-Fetoprotein was elevated with normal carcinoembryonic antigen values in three patients. cytogenetic analysis and radioresistant dna synthesis was compatible with the diagnosis of ataxia-telagiectasia. This family probably represents a rare variant of ataxia-telangiectasia.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/8. Immunological studies on an aberrant form of ataxia telangiectasia.We describe two brothers with ataxia telangiectasia (AT) of which one was unique in that he had no detectable IgG and IgA concentrations in the serum or saliva. The other brother had the more common iga deficiency in the serum and saliva. Neither patient had a history of undue sinopulmonary infections. In spite of the absence of these immunoglobulins in the sera, there were cells in the bone marrow and peripheral blood that stained with fluorescein-labeled anti-IgG and anit-IgA. Both patients had demonstrable humoral antibody and cell-mediated immune responses to the antigens tested. We also discuss possible pathophysiological mechanisms causing the above defects.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
8/8. bronchiolitis obliterans in ataxia-telangiectasia.Pulmonary disease was studied in four patients with ataxia-telangiectasia. Immunodeficiency was characterized by lymphopaenia, hypo-gammaglobulinaemia and decreased T-cell response to phytohaemagglutinin stimulation in mixed lymphocyte cultures. All four patients died from respiratory failure. autopsy revealed that all four patients suffered from bronchiolitis obliterans in all lobes. Immunohistochemical examination demonstrated expression of MHC class II antigens on bronchiolar epithelium. Pulmonary infections in ataxia-telangiectasia patients included a case of mycoplasma pneumonia, one of cytomegalovirus pneumonia and one of pseudomonas aeruginosa infection. The aetiology and immunological background of bronchiolitis obliterans are discussed. bronchiolitis obliterans is a characteristic finding in ataxia-telangiectasia and may be due to the underlying immune deficit.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |