Hypogammaglobulinemia in children: a warning sign to look deeply?

Abstract

This study investigated phenotypic and functional characteristics of lymphocytes in children with common variable immunodeficiency (CVID) and unclassified hypogammaglobulinemia (UH), as well as B-cell subsets in non-consanguineous parents. Blood samples of 30 children, CVID (n = 9), UH (n = 9), healthy donors HD (n = 12), and 19 adults (parents and controls) were labeled by a combination of surface markers to identify CD4, CD8 T-cell and B-cell subpopulations. T-cell cytokine production in children was analyzed in vitro after stimulation with phytohemagglutinin (PHA) and tetanus toxoid. We observed low percentages of switched memory B cells in children with CVID, increase in total CD4 T-cell counts, and high percentages of transitional B cells only in UH group. Analysis of T-cell immunity showed that CVID children had decreased percentages of CD8 IFN-γ-producing cells after stimulation with PHA and tetanus toxoid. Parent of children with CVID had low percentages of naive B cell and increased percentages of memory B cells in comparison with controls. These results suggest that (i) early combined immune defect in children with CVID and (ii) a possible familial B-cell disturbance in pediatric CVID.

Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references

“…There has been an increasing concern regarding costs of medical assistance for patients with different chronic diseases, including primary immunodeficiencies (PID) (1-7), which are not so rare and often underdiagnosed. In PID, several studies have shown that costs are often associated with delayed diagnosis (8)(9)(10)(11)(12)(13)(14). This generates a series of deleterious events for the patient, their families and the health system, especially regarding hospitalizations due to infection (8)(9)(10)(11)(12)(13)(14).…”

“…In PID, several studies have shown that costs are often associated with delayed diagnosis (8)(9)(10)(11)(12)(13)(14). This generates a series of deleterious events for the patient, their families and the health system, especially regarding hospitalizations due to infection (8)(9)(10)(11)(12)(13)(14). The ideal diagnostic approach for PIDs includes extensive immunophenotyping of peripheral lymphocyte subsets, functional and molecular tests, and should be performed as early as possible (15,16).…”