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• W2169083635 abstract "B cell precursors transiently express a pre–B cell receptor complex consisting of a rearranged mu heavy chain, a surrogate light chain composed of λ5/14.1 and VpreB, and the immunoglobulin (Ig)-associated signal transducing chains, Igα and Igβ. Mutations in the mu heavy chain are associated with a complete failure of B cell development in both humans and mice, whereas mutations in murine λ5 result in a leaky phenotype with detectable humoral responses. In evaluating patients with agammaglobulinemia and markedly reduced numbers of B cells, we identified a boy with mutations on both alleles of the gene for λ5/14.1. The maternal allele carried a premature stop codon in the first exon of λ5/14.1 and the paternal allele demonstrated three basepair substitutions in a 33-basepair sequence in exon 3. The three substitutions correspond to the sequence in the λ5/14.1 pseudogene 16.1 and result in an amino acid substitution at an invariant proline. When expressed in COS cells, the allele carrying the pseudogene sequence resulted in defective folding and secretion of mutant λ5/14.1. These findings indicate that expression of the functional λ5/14.1 is critical for B cell development in the human." @default.
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• W2169083635 date "1998-01-05" @default.
• W2169083635 modified "2023-09-23" @default.
• W2169083635 title "Mutations in the Human <i>λ5/14.1</i> Gene Result in B Cell Deficiency and Agammaglobulinemia" @default.
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• W2169083635 doi "https://doi.org/10.1084/jem.187.1.71" @default.
• W2169083635 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2199185" @default.
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