Immunophenotypic and functional analysis of lymphocyte subsets in common variable immunodeficiency patients without

Farzaneh Tofighi Zavareh1,2,3, Abbas Mirshafiey1,2, Reza Yazdani1,3,4

  • 1Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Insights

Common variable immunodeficiency (CVID) involves lymphocyte abnormalities. Genetically unsolved CVID patients show distinct B and T cell changes, suggesting these alterations are not solely due to genetic mutations.

Area of Science:

  • Immunology
  • Genetics

Background:

  • Common variable immunodeficiency (CVID) presents with diverse lymphocyte abnormalities, often linked to disease manifestations in patients lacking identified genetic defects.
  • Understanding these lymphocyte alterations is crucial for diagnosing and managing CVID, especially in genetically unsolved cases.

Purpose of the Study:

  • To investigate the association between B and T lymphocyte abnormalities and the incidence of CVID in genetically unsolved patients.
  • To characterize specific B and T cell subset alterations and CD4+ T-cell proliferation in non-monogenic CVID.

Main Methods:

  • Flow cytometry was used to analyze B and T lymphocyte subsets in 26 genetically unsolved CVID patients.
  • Carboxyfluorescein succinimidyl ester (CFSE) assay assessed CD4+ T-cell proliferation.

Main Results:

  • Reduced levels of total, naive, memory B cells, plasmablasts, and naive CD4+ and CD8+ T cells were observed.
  • Increased CD21low B cells, transitional B cells, effector memory (EM) and terminally differentiated effector memory (TEMRA) CD4+ T cells, and activated/cytotoxic CD8+ T cells were noted.
  • Impaired CD4+ T-cell proliferation, indicated by reduced division index and percent divided, was detected.

Conclusions:

  • The observed lymphocyte abnormalities in genetically unsolved CVID patients resemble those in monogenic CVID, suggesting these changes are not solely driven by genetic mutations.
  • Novel correlations between lymphocyte alterations in these patients may help predict future CVID development in children with hypogammaglobulinemia.