title: An essential role for BLNK in human B cell development.
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.
authors.affiliation: Department of Immunology, Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Minegishi
authors.forename: J
authors.initials: J
authors.lastname: Rohrer
authors.forename: E
authors.initials: E
authors.lastname: Coustan-Smith
authors.forename: H M
authors.initials: HM
authors.lastname: Lederman
authors.forename: R
authors.initials: R
authors.lastname: Pappu
authors.forename: D
authors.initials: D
authors.lastname: Campana
authors.forename: A C
authors.initials: AC
authors.lastname: Chan
authors.forename: M E
authors.initials: ME
authors.lastname: Conley
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics* / Q000276:immunology; D018941:Antigens, CD19 / Q000032:analysis; D018952:Antigens, CD34 / Q000032:analysis; D001402:B-Lymphocytes / Q000166:cytology*; D001854:Bone Marrow Cells / Q000166:cytology; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology*; D002454:Cell Differentiation; D002874:Chromosome Mapping; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain; D006412:Hematopoietic Stem Cells / Q000166:cytology*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010750:Phosphoproteins; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015398:Signal Transduction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018941:Antigens, CD19; D018952:Antigens, CD34; C113939:B cell linker protein; D002352:Carrier Proteins; D010750:Phosphoproteins; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase