Ataxia telangiectasia laboratory findings: Difference between revisions
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== | == Laboratory Findings == | ||
Diagnosis is usually achieved by examination and identification of both ataxia and oculo-cutaneous telangiectasia. This is then followed by laboratory tests for low levels of [[IgA]], IgG2, IgG4, and [[IgE]], though low [[IgG]] is less frequent ( up to 10-18 % of cases)<ref name="titleAtaxia-Telangiectasia: Immunodeficiency Disorders: Minto H, Mensah KA, Reynolds PR, Meffre E, Rubtsova K, Gelfand EW. A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas">{{cite web |url=https://www.frontiersin.org/articles/10.3389/fimmu.2019.02940/full#B13}}</ref>. [[IgM]] levels rises in approximately 60 % of cases. Sufferers may also have a low [[lymphocyte]] count and other immunological abnormalities. This can then be followed by cytogenetic and molecular testing to confirm the diagnosis. [[MRI]] and [[CT]] scans may show signs of cerebellar atrophy. | |||
Diagnosis is usually achieved by examination and identification of both ataxia and oculo-cutaneous telangiectasia. This is then followed by laboratory tests for low levels of IgA, IgG2, IgG4, and IgE. | |||
== References == | == References == | ||
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[[Category:Needs overview]] | |||
[[Category:Disease]] | |||
[[Category:Neurology]] | |||
[[Category:Genetic disorders]] | |||
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Latest revision as of 16:07, 12 June 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Laboratory Findings
Diagnosis is usually achieved by examination and identification of both ataxia and oculo-cutaneous telangiectasia. This is then followed by laboratory tests for low levels of IgA, IgG2, IgG4, and IgE, though low IgG is less frequent ( up to 10-18 % of cases)[1]. IgM levels rises in approximately 60 % of cases. Sufferers may also have a low lymphocyte count and other immunological abnormalities. This can then be followed by cytogenetic and molecular testing to confirm the diagnosis. MRI and CT scans may show signs of cerebellar atrophy.
References
- ↑ https://www.frontiersin.org/articles/10.3389/fimmu.2019.02940/full#B13. Missing or empty
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