TY  - GEN
AU  - Staples,E R
AU  - McDermott,E M
AU  - Reiman,A
AU  - Byrd,P J
AU  - Ritchie,S
AU  - Taylor,A M R
AU  - Davies,E G
TI  - Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
SN  - 1365-2249
PY  - 2008///0915
KW  - Adolescent
KW  - Adult
KW  - Antibodies, Bacterial
KW  - blood
KW  - Ataxia Telangiectasia
KW  - genetics
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - B-Lymphocytes
KW  - immunology
KW  - Cell Cycle Proteins
KW  - Child
KW  - Child, Preschool
KW  - DNA-Binding Proteins
KW  - Humans
KW  - Immunoglobulin A
KW  - Immunoglobulin G
KW  - analysis
KW  - Immunoglobulins, Intravenous
KW  - therapeutic use
KW  - Lymphocyte Count
KW  - Lymphopenia
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Protein Serine-Threonine Kinases
KW  - Retrospective Studies
KW  - Streptococcus pneumoniae
KW  - T-Lymphocytes
KW  - Tumor Suppressor Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/j.1365-2249.2008.03684.x
ER  -