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PubMed · 7919918

X-linked immunodeficiencies.

M E Conley
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Abstract

In the past year, researchers have identified the genes responsible for X-linked severe combined immunodeficiency (encoding a cytokine receptor protein), X-linked agammaglobulinemia (encoding a cytoplasmic tyrosine kinase) and X-linked hyper IgM syndrome (encoding the ligand for CD40). Although these three genes are completely unrelated, it is of interest that all are lineage-specific genes that are involved in the control of lymphocyte proliferation or differentiation.

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AgammaglobulinemiaChildFemaleGenetic LinkageHumansHypergammaglobulinemiaImmunoglobulin MImmunologic Deficiency SyndromesInfant, NewbornMaleSevere Combined ImmunodeficiencyX ChromosomeJournal ArticleReview

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BibTeXRIS

M E Conley. 1994. X-linked immunodeficiencies.. https://doi.org/10.1016/0959-437x(94)90028-0

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PubMed1998

Clinical usage of intravenous immunoglobulins in Auckland.

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Agammaglobulinemia↗
PubMed1998

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

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 associated with a complete failure of B cell development in both humans and mice, whereas mutations in murine lambda5 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 lambda5/14.1. The maternal allele carried a premature stop codon in the first exon of lambda5/14.1 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 lambda5/14. 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 lambda5/14.1. These findings indicate that expression of the functional lambda5/14.1 is critical for B cell development in the human.

Agammaglobulinemia↗