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Condition report · Immunological

Ataxia-Telangiectasia

Ataxia-telangiectasia is caused by changes in both copies of ATM. It causes progressive loss of coordination from early childhood, small dilated blood vessels in the eyes and skin, immunodeficiency with recurrent chest infections, sensitivity to radiation and a high risk of blood cancers. Carrying a single ATM change is a separate, moderate breast cancer risk and is not covered by this report.

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The condition we analyse

Ataxia-telangiectasia

Autosomal recessive

Progressive cerebellar ataxia, telangiectasia, immunodeficiency and cancer predisposition caused by biallelic ATM changes.

What a diagnosis changes

Diagnosis guides infection prevention and immunoglobulin replacement, minimising exposure to ionising radiation, cancer and lung monitoring, and carrier testing in relatives.

Genes analysed

Also known as

AT; AT1; ataxia telangiectasia syndrome; cerebello-oculocutaneous telangiectasia; immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome

Includes 1 related subtype ↓
  • ataxia-telangiectasia with generalized skin pigmentation and early death
MONDO:0008840OMIM 208900Orphanet 100MedGen 439

Other immunological conditions

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