Ataxia-Telangiectasia
(See also Overview of Immunodeficiency Disorders.)
Ataxia-telangiectasia is a primary immunodeficiency disorder. It is usually inherited as an autosomal (not sex-linked) recessive disorder. That is, two genes for the disorder, one from each parent, are required.
The increased susceptibility to infections in people with ataxia-telangiectasia results from malfunction of B cells and T cells (lymphocytes), which help the body defend itself against microorganisms and abnormal cells. Often, levels of certain types (classes) of antibodies (immunoglobulins)—IgA and IgE—are also low.
Ataxia-telangiectasia also causes abnormalities in the cerebellum (the part of the brain that coordinates the body’s movements), which are unrelated to the immunodeficiency disorder and which result in loss of coordination.
Symptoms
Incoordination (ataxia) usually develops when children begin to walk, but it may be delayed until age 4. Speech becomes slurred, and muscles progressively weaken, leading to severe disability. Intellectual disability may develop and progress.
Between the ages of 1 and 6 (but often not until age 4), capillaries in the skin and eyes become dilated and visible. The dilated capillaries (telangiectasia), called spider veins, are usually most obvious on the eyeballs, ears, and sides of the neck.
The endocrine system may be affected, resulting in small testes (in boys), infertility, and diabetes.
Sinus and lung infections recur, often leading to pneumonia and chronic lung disorders such as bronchiectasis (irreversible widening due to chronic inflammation of the airways).
The risk of cancer, especially leukemia, lymphoma, brain tumors, and stomach cancer, is increased.
Ataxia-telangiectasia usually progresses to paralysis, dementia, and death, typically by age 30.
Diagnosis
Treatment
To help prevent infections, doctors give people antibiotics and immune globulin (antibodies obtained from the blood of people with a normal immune system), which provides the missing immunoglobulins. Immune globulin may be injected into a vein (intravenously) once a month or under the skin (subcutaneously) once a week or once a month.
However, these drugs do not relieve the other problems.
More Information
Drugs Mentioned In This Article
| Generic Name | Select Brand Names |
|---|---|
immune globulin |
Gammagard S/D |
