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Article

Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.

The Journal of experimental medicine - 5 Jan 1998

Minegishi Y, Coustan-Smith E, Wang Y H, Cooper M D, Campana D, Conley M E

Abstract excerpt

B cell precursors transiently express a pre-B cell receptor complex consisting of a rearranged mu heavy chain, a surrogate light chain composed of lambda5/14.1 and VpreB, and the immunoglobulin (Ig)-associated signal transducing chains, Igalpha and Igbeta. Mutations in the mu heavy chain are asso...

Topics

Agammaglobulinemia
Animals
B-Lymphocytes
Base Sequence
COS Cells
Child, Preschool
DNA Primers
Genes, Immunoglobulin
Hematopoietic Stem Cells
Humans
Immunoglobulin lambda-Chains
Lymphopenia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mice

Mutation

Pseudogenes

Source

Open in PubMed Open full text

Identifiers

PMID: 9419212
DOI: 10.1084/jem.187.1.71
PMCID: PMC2199185

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9419212-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.PMID 9419212Read ↗

Gene conversion events contribute to the polymorphic variation of the surrogate light chain gene lambda 5/14.1.Semantic proximity Read ↗

A critical role of lambda 5 protein in B cell development.Semantic proximity Read ↗

Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta.Semantic proximity Read ↗

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.Semantic proximity Read ↗

Agammaglobulinemia: causative mutations and their implications for novel therapies.Semantic proximity Read ↗

Mutations of the Igbeta gene cause agammaglobulinemia in man.Semantic proximity Read ↗

Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway.Semantic proximity Read ↗

Mutations in Igalpha (CD79a) result in a complete block in B-cell development.Semantic proximity Read ↗

An insertion-deletion event in murine immunoglobulin kappa gene resembles mutations at heavy-chain disease loci.Semantic proximity Read ↗

Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.Semantic proximity Read ↗

Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse.Semantic proximity Read ↗

Lambda5 is required for rearrangement of the Ig kappa light chain gene in pro-B cell lines.Semantic proximity Read ↗

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