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    Science. 1999 Dec 3;286(5446):1954-7.

    An essential role for BLNK in human B cell development.

    Minegishi Y, Rohrer J, Coustan-Smith E, Lederman HM, Pappu R, Campana D, Chan AC, Conley ME.

    Department of Immunology, Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

    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.

    PMID: 10583958 [PubMed - indexed for MEDLINE]

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