Publication Date:
1999-12-03
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Minegishi, Y -- Rohrer, J -- Coustan-Smith, E -- Lederman, H M -- Pappu, R -- Campana, D -- Chan, A C -- Conley, M E -- AI25129/AI/NIAID NIH HHS/ -- AI42787/AI/NIAID NIH HHS/ -- CA71516/CA/NCI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1999 Dec 3;286(5446):1954-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Immunology, Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10583958" target="_blank"〉PubMed〈/a〉
Keywords:
Adaptor Proteins, Signal Transducing
;
Adult
;
Agammaglobulinemia/*genetics/immunology
;
Antigens, CD19/analysis
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Antigens, CD34/analysis
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B-Lymphocytes/*cytology
;
Bone Marrow Cells/cytology
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Carrier Proteins/genetics/*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/physiology
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Reverse Transcriptase Polymerase Chain Reaction
;
Signal Transduction
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
