Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency

Blood. 2005 Jan 15;105(2):511-7. doi: 10.1182/blood-2003-12-4359. Epub 2004 Sep 14.

Abstract

Reduced levels of somatic hypermutation (SHM) have recently been described in IgG-switched immunoglobulin genes in a minority of patients with common variable immunodeficiency (CVID), demonstrating a disruption of the normal linkage between isotype switch and SHM. To see if, irrespective of isotype, there is a tendency to use unmutated immunoglobulin genes in CVID, we studied SHM in kappa light-chain transcripts using a VkappaA27-specific restriction enzyme-based hot-spot mutation assay (IgkappaREHMA). Hot-spot mutations were found in 48% (median; reference interval, 28%-62%) of transcripts from 53 healthy controls. Values were significantly lower in 31 patients (median, 7.5%; range, 0%-73%; P < .0000001) of whom 24 (77%) had levels below the reference interval. Low levels of SHM correlated with increased frequency of severe respiratory tract infection (SRTI; P < .005), but not with diarrhea (P = .8). Mannose-binding lectin (MBL) deficiency also correlated with SRTI score (P = .009). However, the correlation of SHM and SRTI was also seen when only patients with normal MBL genotypes were analyzed (n = 18, P = .006). A slight decline of mutated fractions over years was noted (P = .01). This suggests that most patients with CVID fail to recruit affinity-maturated B cells, adding a qualitative deficiency to the quantitative deficiency characterizing these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cloning, Molecular
  • Common Variable Immunodeficiency / epidemiology
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / immunology
  • Female
  • Humans
  • Immunoglobulin Variable Region / genetics
  • Immunoglobulin Variable Region / immunology
  • Immunoglobulin kappa-Chains / genetics*
  • Immunoglobulin kappa-Chains / immunology
  • Immunologic Memory
  • Incidence
  • Male
  • Mannose-Binding Lectin / deficiency
  • Respiratory Tract Infections / epidemiology
  • Respiratory Tract Infections / genetics*
  • Respiratory Tract Infections / immunology
  • Severity of Illness Index
  • Somatic Hypermutation, Immunoglobulin / immunology*
  • Tumor Necrosis Factor Receptor Superfamily, Member 7 / metabolism

Substances

  • Immunoglobulin Variable Region
  • Immunoglobulin kappa-Chains
  • Mannose-Binding Lectin
  • Tumor Necrosis Factor Receptor Superfamily, Member 7