| Literature DB >> 2838527 |
Abstract
X-linked agammaglobulinemia (XLA) results from failure of B lymphocyte development. Immature B cells from a patient with XLA were found to produce truncated mu and delta immunoglobulin H chains encoded by D-JH-C (mu delta). The 5' terminal sequence of cDNA encoding the H chains is composed of D-JH with the characteristic GGTTTGAAG/CACTGTG consensus sequence utilized for VH gene rearrangement upstream, and a leader sequence that serves for translation of this intermediate stage of rearrangement. Failure of variable region gene rearrangement may underlie the failure of B lymphoid development in XLA.Entities:
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Year: 1988 PMID: 2838527 PMCID: PMC442655 DOI: 10.1172/JCI113550
Source DB: PubMed Journal: J Clin Invest ISSN: 0021-9738 Impact factor: 14.808