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Research Article Free access | 10.1172/JCI113550

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

J Schwaber and R H Chen

Children's Hospital-Boston, Massachusetts 02115.

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Children's Hospital-Boston, Massachusetts 02115.

Find articles by Chen, R. in: JCI | PubMed | Google Scholar

Published June 1, 1988 - More info

Published in Volume 81, Issue 6 on June 1, 1988
J Clin Invest. 1988;81(6):2004–2009. https://doi.org/10.1172/JCI113550.
© 1988 The American Society for Clinical Investigation
Published June 1, 1988 - Version history
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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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