An essential role for BLNK in human B cell development

Yoshiyuki Minegishi, Jurg Rohrer, Elaine Coustan-Smith, Howard M. Lederman, Rajita Pappu, Dario Campana, Andrew C. Chan, Mary Ellen Conley

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1954-1957
Number of pages4
JournalScience
Volume286
Issue number5446
DOIs
StatePublished - Dec 3 1999
Externally publishedYes

ASJC Scopus subject areas

  • General

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