Abstract
The signal transduction events that control the progenitor B cell (pro-B cell) to precursor B cell (pre-B cell) transition have not been well delineated. In evaluating patients with absent B cells, a male with a homozygous splice defect in the cytoplasmic adapter protein BLNK (B cell linker protein) was identified. Although this patient had normal numbers of pro-B cells, he had no pre-B cells or mature B cells, indicating that BLNK plays a critical role in orchestrating the pro-B cell to pre-B cell transition. The immune system and overall growth and development were otherwise normal in this patient, suggesting that BLNK function is highly specific.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adaptor Proteins, Signal Transducing
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Adult
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / genetics*
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Agammaglobulinemia / immunology
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Antigens, CD19 / analysis
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Antigens, CD34 / analysis
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B-Lymphocytes / cytology*
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Bone Marrow Cells / cytology
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Carrier Proteins / genetics
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Carrier Proteins / physiology*
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Cell Differentiation
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Chromosome Mapping
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Gene Rearrangement, B-Lymphocyte, Heavy Chain
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Hematopoietic Stem Cells / cytology*
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Humans
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Male
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Molecular Sequence Data
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Phosphoproteins*
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Point Mutation
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Protein-Tyrosine Kinases / genetics
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Protein-Tyrosine Kinases / physiology
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Reverse Transcriptase Polymerase Chain Reaction
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Signal Transduction
Substances
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Adaptor Proteins, Signal Transducing
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Antigens, CD19
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Antigens, CD34
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B cell linker protein
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Carrier Proteins
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Phosphoproteins
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
Associated data
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GENBANK/AF180740
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GENBANK/AF180741
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GENBANK/AF180742
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GENBANK/AF180743
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GENBANK/AF180744
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GENBANK/AF180745
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GENBANK/AF180746
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GENBANK/AF180747
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GENBANK/AF180748
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GENBANK/AF180749
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GENBANK/AF180750
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GENBANK/AF180751
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GENBANK/AF180752
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GENBANK/AF180753
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GENBANK/AF180754
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GENBANK/AF180755
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GENBANK/AF180756