"Ataxia Telangiectasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
| Descriptor ID |
D001260
|
| MeSH Number(s) |
C10.228.140.252.190.530.060 C10.562.100 C10.597.350.090.500.530.060 C14.907.823.213 C16.320.080 C18.452.284.060 C20.673.290
|
| Concept/Terms |
Ataxia Telangiectasia- Ataxia Telangiectasia
- Ataxia-Telangiectasia
- Telangiectasia, Cerebello-Oculocutaneous
- Ataxia Telangiectasia Syndrome
- Syndrome, Ataxia Telangiectasia
- Louis-Bar Syndrome
- Louis Bar Syndrome
- Syndrome, Louis-Bar
|
Below are MeSH descriptors whose meaning is more general than "Ataxia Telangiectasia".
Below are MeSH descriptors whose meaning is more specific than "Ataxia Telangiectasia".
This graph shows the total number of publications written about "Ataxia Telangiectasia" by people in this website by year, and whether "Ataxia Telangiectasia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Ataxia Telangiectasia" by people in Profiles.
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Analysis of chromosomal aberrations and ?H2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients. Mutat Res Genet Toxicol Environ Mutagen. 2021 Jan-Feb; 861-862:503301.
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Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM. J Immunoassay Immunochem. 2015; 36(1):16-26.
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Testing for herpesvirus infection is essential in children with chromosomal-instability syndromes. J Virol. 2013 Mar; 87(6):3616-7.
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Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia. J Clin Immunol. 2012 Jun; 32(3):438-40.
MeSH information
