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

Clinical and Experimental Immunology

Volumn 153, Issue 2, 2008, Pages 214-220

  Staples, E R ^a   McDermott, E M ^a   Reiman, A ^b   Byrd, P J ^b   Ritchie, S ^d   Taylor, A M R ^b   Davies, E G ^c  

^a QUEEN S MEDICAL CENTRE   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d Great Ormond Street Hospital ^*

Author keywords

Ataxia telangiectasia; ATM; Immunodeficiency; Mutation type

Indexed keywords

ANTIBIOTIC AGENT; ATM PROTEIN; AZITHROMYCIN; COTRIMOXAZOLE; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ANTIBIOTIC PROPHYLAXIS; ARTICLE; ATAXIA TELANGIECTASIA; B LYMPHOCYTE; CD4 LYMPHOCYTE COUNT; CD8+ T LYMPHOCYTE; ENZYME ACTIVITY; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOTHERAPY; LUNG INFECTION; LYMPHOCYTOPENIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; RECURRENT INFECTION; RETROSPECTIVE STUDY; SINUSITIS; STATISTICAL ANALYSIS;

ADOLESCENT; ADULT; ANTIBODIES, BACTERIAL; ATAXIA TELANGIECTASIA; B-LYMPHOCYTES; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; HUMANS; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULINS, INTRAVENOUS; LYMPHOCYTE COUNT; LYMPHOPENIA; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN-SERINE-THREONINE KINASES; RETROSPECTIVE STUDIES; STREPTOCOCCUS PNEUMONIAE; T-LYMPHOCYTES; TUMOR SUPPRESSOR PROTEINS;

EID: 47249163337     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/j.1365-2249.2008.03684.x     Document Type: Article

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