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. 1988 Oct;82(4):1471–1476. doi: 10.1172/JCI113754

Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion.

J Schwaber 1, N Koenig 1, J Girard 1
PMCID: PMC442707  PMID: 3139715

Abstract

The X chromosome-linked antibody deficiency disease, X-linked agammaglobulinemia (XLA), results from failure of B lymphoid development. In the minor form of XLA, B lymphoid development terminates at the stage of immature B lymphocytes that produce truncated Ig heavy (H) chains composed of D-J-C(mu/delta), resulting from failure of VH gene rearrangement. Fusion of B cells from a patient with the minor form of XLA with mouse myeloma results in complementation of this defect; hybrid cells produce full-length H chains composed of VH-D-JH-C. The VH gene is of human origin. Complementation occurs independent of retention or loss of the human X (XLA) chromosome in the hybrid cells. These results indicate that the D-JH-C structure of the XLA B cells is fully functional for the subsequent rearrangement of a VH gene element, and that failure of immunoglobulin expression is susceptible to correction.

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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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