1. An Essential Role for BLNK in Human B Cell Development
- Author
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Jurg Rohrer, Andrew C. Chan, Howard M. Lederman, Yoshiyuki Minegishi, Dario Campana, Mary Ellen Conley, Elaine Coustan-Smith, and Rajita Pappu
- Subjects
Adult ,Male ,Antigens, CD19 ,Molecular Sequence Data ,Cell ,Gene Rearrangement, B-Lymphocyte, Heavy Chain ,Antigens, CD34 ,Bone Marrow Cells ,Biology ,Immune system ,Agammaglobulinemia ,Agammaglobulinaemia Tyrosine Kinase ,medicine ,Humans ,Point Mutation ,B cell ,Adaptor Proteins, Signal Transducing ,Progenitor ,B-Lymphocytes ,Multidisciplinary ,Transition (genetics) ,Reverse Transcriptase Polymerase Chain Reaction ,Chromosome Mapping ,Cell Differentiation ,Protein-Tyrosine Kinases ,Hematopoietic Stem Cells ,Phosphoproteins ,Cell biology ,medicine.anatomical_structure ,Immunology ,Signal transduction ,Carrier Proteins ,B-Cell Linker Protein ,Function (biology) ,Signal Transduction - 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.
- Published
- 1999
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