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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and pathological features are described in a child with ataxia-telangiectasia, complicated by fatal disseminated herpes simplex virus infection. Herpes simplex virus was isolated from the patient's blood, and the histopathological findings in the skin, liver and adrenals were consistent with herpes simplex virus infection. The patient had a combined immune deficiency state, as a part of the ataxia-telangiectasia syndrome. She had imparied cellular immune response to herpes simplex virus and developed no antibodies against the virus. To our knowledge, this is the first fatal case of disseminated herpes simplex virus infection in ataxiatelangiectasia.
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PMID:Disseminated Herpes simplex virus infection in ataxia-telangiectasia. 69 12

There is an increased prevalence (P less than 0.001) of IgA deficiency in children with juvenile-onset insulin-dependent diabetes mellitus (9/366) but not in adults with insulin-dependent diabetes (0/421). The juvenile diabetics with IgA deficiency have other immune-associated diseases, such as thyroiditis and chronic active hepatitis, and have a history of infections. Four of the nine IgA-deficient diabetics we studied have autoantibodies to endocrine organs. Seven of eight have the HLA-B8, a proportion significantly (P less than 0.05) greater than control populations. Based on the clinical findings of IgA deficiency and multiple autoantibodies in patients with ataxia-telangiectasia and chronic mucocutaneous candidiasis, diseases associated with thymus deficiency, we suspect that thymus deficiency and autoimmunity may play a role in the pathogenesis of some types of juvenile-onset diabetes mellitus. In addition, an excess morbidity of the IgA-deficient juvenile diabetic population may explain the lack of IgA deficiency in older insulin-dependent diabetic individuals.
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PMID:Immunopathology of juvenile-onset diabetes mellitus. I. IgA deficiency and juvenile diabetes. 72 Jul 69

Electromography, motor, sensory and mixed nerve conduction velocity, and H reflex were studied in four patients with ataxia-telangiectasia. The earliest and most striking electrophysiologial finding was the reduced amplitude of evoked nerve potentials. In the oldest patient, findings suggestive of spinal atrophy and mild reduction of the motor and sensory nerve conduction velocities were found. Reduced amplitude in the evoked nerve potentials can be observed without clinical evidence of peripheral neuropathy. Electrophysiological abnormalities are more severe in older than in young patients. Sural nerve biopsy in one patient showed mild changes: loss of the largest myelinated fibres and demyelination of some fibres. The ratio between maximum conduction velocity of the sural nerve and the diameter of the largest fibres was in the lower limits of the normal range. The resemblance between electrophysiological abnormalities in Friedreich's ataxia and ataxia-telangiectasia is discussed.
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PMID:Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia. 84 6

Autoimmune disorders are reportedly more frequent than expected in immunodeficient patients and in their relatives. The hypothesis that genetic factors related to immunodeficiency may predispose to the development of autoimmunity was studied in relatives of patients with variable immunodeficiency (VID), ataxia-telangiectasia (A-T), or X-linked infantile agammaglobulinaemia (X-LA). Close relatives of patients with VID or A-T had thyroid and gastric autoantibodies significantly more frequently than did control subjects. No abnormalities were detected in unaffected relatives of X-LA patients. The increased incidence of organ-specific autoantibodies in close relatives of VID patients was confined to those families with more than one member with immunodeficiency. These data suggest that there are at least two forms of VID, one of which is associated with familial autoimmunity. It is postulated that heterozygous carriers of the A-T gene and persons with genes involved in the development of VID may exhibit T-lymphocyte dysfunction which predisposes them to autoimmunity.
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PMID:Autoimmunity in the relatives of patients with immunodeficiency diseases. 89 Oct 19

The clinical and radiographic features of twenty-two cases of ataxia-telangiectasia are reviewed. Severity of pulmonary manifestations tended to correlate closely with severity of immunodeficiency. Observations are made upon the problem of intercurrent malignancy in ataxia-telangiectasia. The radiographic studies of patients seen at the National Institutes of Health with A-T were reviewed retrospectively and correlated with degrees of immunodeficiency determined clinically. Three fairly distinct groups with high, intermediate and low incidence of sinopulmonary disease were found. Comment is made on the problem of increased malignancy in A-T and possible clues in the detection by the radiologist.
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PMID:Ataxia-telangiectasia. 95 65

Fibroblast cultures derived from skin biopsies of patients with ataxia-telangiectasia had doubling times (mean of five lines: 29.9 +/- 0.6 hours) significantly longer than normal controls (mean of ten lines: 22.4 +/- 0.5 hours).
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PMID:Growth of cultured cells from patients with ataxia-telangiectasia. 97 61

The neuropathologic findings in a 17-year-old boy with ataxia-telangiectasia are described. In agreement with previous reports, pathologic changes were present in the cerebellum, spinal cord, dorsal root ganglia, and straited muscle. The lesions in the spinal cord and dorsal root ganglia were more severe than previously described. Abnormalities were also seen in several brain stem nuclei, including the mesencephalic nucleus of the trigeminus and the substantia nigra. In addition, a small hamartomatous tumor was found in that thalamus.
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PMID:Neuropathologic changes in ataxia-telangiectasia. 98 86

Ataxia-telangiectasia is clinically characterized by the presence of cerebellar ataxia, choreoathetosis, and oculocutaneous telangiectasia. Humorocellular immune deficiency may be associated with the disease. So far, no coagulation abnormalities have been reported in patients with ataxia-telangiectasia. Presence of Hageman factor deficiency in our patient could merely be a coincidental occurrence of two rare independent disease states. Since this coagulation abnormality in Hageman factor deficiency is rather subtle and not usually associated with clinically significant bleeding, this defect can be easily overlooked.
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PMID:Hageman factor deficiency in ataxia telangiectasia. 101 17

Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy. We have detected chromosomally anomalous clones of lymphocytes in eight patients with this disorder. Chromosome banding disclosed that the clones are consistently marked by structural rearrangement of the long arm (q) of chromosome 14. A translocation involving 14q was found in clones obtained from seven of the eight patients whereas a ring 14 chromosome was found in a clone obtained from the other. These findings as well as data obtained by others for patients with ataxia-telangiectasia suggest that structural rearrangement of 14q is the initial chromosomal change in lymphocyte clones of patients with this disorder. Chromosomes of lymphocytes from one of the patients were studied before and after the onset of chronic lymphocytic leukemia. Before leukemia was diagnosed, the patient had a lymphocyte clone with a 14q translocation. This clone appears to have given rise to the leukemic cells. We hypothesize that structural rearrangement of 14q is directly related to abnormal growth of lymphocytes and that it may be a step toward the development of lymphoid malignancies. Increasing evidence, provided by others, for the nonrandom involvement of 14q in African-type Burkitt's lymphoma and other lymphoid neoplasms further strengthens this hypothesis.
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PMID:Somatic rearrangement of chromosome 14 in human lymphocytes. 105 13

A second family is described with a combination of defective thymus-dependent immunity and cerebral palsy. The cerebral palsy comprised nonprogressive dysequilibrium and mild spastic diplegia without limb ataxia. This genetic entity of presumed autosomal recessive inheritance is clearly distinguished from ataxia-telangiectasia. Immunological abnormalities should be sought in other familial or unexplained cerebral palsy syndromes.
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PMID:Familial dysequilibrium-diplegia with T-lymphocyte deficiency. 108 13


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