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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia-telangiectasia
Symptom C0021051|immunodeficiency
Sentences 2
PubMedID- 21461989 More intriguingly, ataxia telangiectasia is associated with an immunodeficiency and the patient was treated for hypogammaglobulinemia since the age of 7 years .
PubMedID- 21792198 Background: immunodeficiency in ataxia telangiectasia (a-t) is less severe in patients expressing some mutant or normal atm kinase activity.

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