What is ataxia-telangiectasia (A-T) associated with hypogammaglobulinemia?

Updated: Dec 26, 2018
  • Author: Elizabeth A Secord, MD; Chief Editor: Michael A Kaliner, MD  more...
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Answer

Ataxia-telangiectasia (A-T)

  • Patients with A-T develop gait ataxia, oculocutaneous telangiectasias, growth retardation, and immune deficiency. However, this diagnosis may not be apparent early because many of these signs and symptoms develop slowly with time and/or may present with regressive loss of developmental milestones, and thus may be difficult to recognize.

  • Clinical immunodeficiency is seen in infancy or early childhood. Growth retardation and delay in gross motor coordination are also seen. Oculocutaneous telangiectasias do not typically appear until patients are aged 3-5 years, so they are not useful in making an early diagnosis.

  • Mutations in the ATM gene and the protein it encodes, nibrin, are responsible for this disorder. The mutations result in defective DNA repair and increased susceptibility to ionizing radiation. Therefore, radiography should be minimized, and the risk of malignancy is very high.

  • IgA deficiency, IgG subclass deficiencies, impaired specific antibody response, and derangement in lymphocyte population are typical of A-T. Elevated levels of alpha-fetoprotein (AFP) and carcinoembryonic antigen (CEA) are seen in 95% of patients with A-T and are virtually pathognomonic.

  • Antibiotic prophylaxis, as well as IgG replacement, is appropriate for the treatment of the immunodeficiency aspect of this syndrome. A multidisciplinary approach to the patient as a whole should be undertaken to address the multisystem nature of this disease.


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