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Research Article Free access | 10.1172/JCI113550
Children's Hospital-Boston, Massachusetts 02115.
Find articles by Schwaber, J. in: JCI | PubMed | Google Scholar
Children's Hospital-Boston, Massachusetts 02115.
Find articles by Chen, R. in: JCI | PubMed | Google Scholar
Published June 1, 1988 - More info
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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