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. 1988 Jun;81(6):2004–2009. doi: 10.1172/JCI113550

Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia.

J Schwaber 1, R H Chen 1
PMCID: PMC442655  PMID: 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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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