Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. [electronic resource]
Producer: 20080915Description: 214-20 p. digitalISSN:- 1365-2249
- Adolescent
- Adult
- Antibodies, Bacterial -- blood
- Ataxia Telangiectasia -- genetics
- Ataxia Telangiectasia Mutated Proteins
- B-Lymphocytes -- immunology
- Cell Cycle Proteins -- genetics
- Child
- Child, Preschool
- DNA-Binding Proteins -- genetics
- Humans
- Immunoglobulin A -- blood
- Immunoglobulin G -- analysis
- Immunoglobulins, Intravenous -- therapeutic use
- Lymphocyte Count
- Lymphopenia -- genetics
- Middle Aged
- Mutation, Missense
- Protein Serine-Threonine Kinases -- genetics
- Retrospective Studies
- Streptococcus pneumoniae -- immunology
- T-Lymphocytes -- immunology
- Tumor Suppressor Proteins -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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