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Expression of immunoglobulin genes in common variable immunodeficiency

Abstract

Five common variable immunodeficiency (CVI) patients were analyzed for expression of immunoglobulin (Ig) genes. In the pokeweed mitogen (PWM)-induced Ig-production assay, the combination of T and B cells showed that all patients' T cells had normal helper functions and all patients' B cells had profound defects. The defective B-cell maturation stages based on their Ig gene expression patterns were variable. One of five patients showed normal μ-chain gene expression and nearly normal IgM production, but neither IgG nor IgA production, which suggested that this patient's B-cell defects might lie on a μ- to γ or μ- to α class-switch stage. B cells in another patient showed low μ-chain gene expression and low IgM production, but an Ig enhancer region, which is an important region for expression of Ig genes, was intact. Thus, this patient might have a transacting factor defect which interacts with the Ig enhancer region. The other three patients showed no μ-chain gene expression and no IgM production. Thus, their B-cell defects lay on the B-cell maturation stage, similar to X-linked agammaglobulinemia. These results showed that primary B-cell defects in CVI occurred at several B-cell differentiation stages, which could be recognized by expression of Ig genes.

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Correspondence to Naomi Kondo.

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Kaneko, H., Kondo, N., Motoyoshi, F. et al. Expression of immunoglobulin genes in common variable immunodeficiency. J Clin Immunol 11, 262–267 (1991). https://doi.org/10.1007/BF00918184

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Key words

  • Common variable immunodeficiency (CVI)
  • μ messenger RNA
  • interleukins
  • Ig enhancer