Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.

Staples, E R; McDermott, E M; Reiman, A; Byrd, P J; Ritchie, S; Taylor, A M R; Davies, E G

Staples, E R; McDermott, E M; Reiman, A; Byrd, P J; Ritchie, S; Taylor, A M R; Davies, E G.

Affiliation

Staples ER; Department of Immunology, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK.

Clin Exp Immunol ; 153(2): 214-20, 2008 Aug.

Article in En | MEDLINE | ID: mdl-18505428

Subject(s)

Ataxia Telangiectasia/immunology; Cell Cycle Proteins/genetics; DNA-Binding Proteins/genetics; Lymphopenia/immunology; Mutation, Missense; Protein Serine-Threonine Kinases/genetics; Tumor Suppressor Proteins/genetics; Adolescent; Adult; Antibodies, Bacterial/blood; Ataxia Telangiectasia/genetics; Ataxia Telangiectasia/therapy; Ataxia Telangiectasia Mutated Proteins; B-Lymphocytes/immunology; Child; Child, Preschool; Humans; Immunoglobulin A/blood; Immunoglobulin G/analysis; Immunoglobulins, Intravenous/therapeutic use; Lymphocyte Count; Lymphopenia/genetics; Lymphopenia/therapy; Middle Aged; Retrospective Studies; Streptococcus pneumoniae/immunology; T-Lymphocytes/immunology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia Telangiectasia / Protein Serine-Threonine Kinases / Cell Cycle Proteins / Mutation, Missense / Tumor Suppressor Proteins / DNA-Binding Proteins / Lymphopenia Type of study: Observational_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Middle aged Language: En Journal: Clin Exp Immunol Year: 2008 Document type: Article

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