Immunodeficiency with Ataxia Telangiectasia (A-T) is a hereditary condition, which affects several bodily systems, mainly the immune function. Patients with A-T have jittery, floppy movement patterns that worsen with age. They also suffer from dilated, corkscrew-shaped blood vessels on the whites of their eyes and sun-exposed regions of skin incorporating both cellular and humoral immunity and a high level of cancer. Moreover, immunodeficiency with ataxia-telangiectasia is caused by a DNA repair problem that produces repeated sinopulmonary infections, oculocutaneous telangiectasias, and progressive cerebellar ataxia.


The age at which neurologic symptoms appear and the presence of immunodeficiency varies for immunodeficiency with ataxia-telangiectasia. Ataxia is generally the first sign and commonly occurs when youngsters started to walk.

Moreover, the development of neurologic symptoms results in a serious impairment, which includes:

  • Muscular weakening which develops into muscle damage
  • Emerging of nystagmus and choreoathetosis motions
  • Slurring of pronunciation

Additionally, cancer is common in people having immunodeficiency with ataxia-telangiectasia like stomach cancer, brain tumor, lymphoma, and leukemia. Cancer develops at a rate of roughly 1% per year after the age of 10, although it is a lifetime risk and may appear at any time.


The following testing procedures may be conducted to diagnose this condition:

  • Genetic Testing
  • IgA and serum alpha-1 fetoprotein levels

Moreover, the following clinical symptoms point to an immunodeficiency with ataxia-telangiectasia diagnosis:

  • When karyotype analysis is performed, chromosomal breaks are frequently observed, which is associated with a failure in DNA repair.
  • Serum alpha-1 fetoprotein levels are elevated.
  • IgA deficiency (present in 80% of patients with this disorder)
  • Cerebral ataxia (especially if telangiectasias exist)

The presence of mutations in both alleles of the ATM protein gene confirms the diagnosis of immunodeficiency with ataxia-telangiectasia. Since bearers of an ataxia-telangiectasia mutation are frequently asymptomatic, testing relatives for a carrier status may assist in determining whether or not they will have an afflicted kid. Clinical presentation is also used to guide testing for endocrine disorders and malignancies.


Prophylactic antibiotics or immune globulin (IgG) replacement treatment are used to provide supportive medication since they could both benefit people experiencing ataxia-telangiectasia. In addition, therapy with amantadine showed some progress in motor activity in one small research, but there is no successful therapy for the gradual neurologic degeneration that leads to death.

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