B-cell maturation defects in common variable immunodeficiency and association with clinical features

Pathology. 2008 Apr;40(3):288-94. doi: 10.1080/00313020801911470.

Abstract

Aims: Patients with common variable immunodeficiency (CVID) often have defects in post-antigenic B-cell differentiation with fewer memory B cells and impaired isotype switching. We aimed to classify CVID patients according to these defects and determine whether this predicted clinical manifestations.

Methods: We analysed the memory marker CD27, maturation marker CD21, and IgD on peripheral blood B cells from 31 CVID patients and 23 controls using a whole-blood lysis technique, allocated patients according to two classifications ('Freiburg' and 'Paris') and correlated results with clinical manifestations.

Results: CVID patients had fewer memory (CD27(+)) B cells and isotype-switched (IgD(-)) memory B cells in absolute number and proportion. Many CVID patients had increased immature (CD21(-)) B cells. Lymphoproliferation and autoimmune cytopenias were found almost exclusively in these patients, including Freiburg group Ia (decreased switched memory and increased immature B cells), but also those with normal switched memory and increased immature B cells. The Paris classification was less useful in predicting clinical manifestations.

Conclusions: CVID is associated with defects in memory B-cell differentiation. Subclassification helps identify patients with clinical manifestations, particularly lymphoproliferation and autoimmune cytopenias in those with impaired B-cell maturation and isotype switching. Routine B-cell phenotyping may assist clinicians in predicting these clinical features.

MeSH terms

  • Adult
  • Aged
  • B-Lymphocyte Subsets / immunology*
  • B-Lymphocyte Subsets / metabolism
  • B-Lymphocytes / immunology*
  • B-Lymphocytes / metabolism
  • Cell Differentiation / immunology*
  • Common Variable Immunodeficiency / classification*
  • Common Variable Immunodeficiency / immunology*
  • Female
  • Humans
  • Immunoglobulin Class Switching
  • Immunoglobulin D
  • Immunologic Memory
  • Male
  • Middle Aged
  • Phenotype
  • Receptors, Complement 3d / metabolism
  • Tumor Necrosis Factor Receptor Superfamily, Member 7 / metabolism

Substances

  • Immunoglobulin D
  • Receptors, Complement 3d
  • Tumor Necrosis Factor Receptor Superfamily, Member 7