Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes
Most of primary immunodeficiencies with hypogammaglobulinemia are associated with reduced memory B cells. T cell development may be interesting as well, but increased recent thymic emigrants are rarely reported in these patients. We report the case of a family (mother and her two sons) diagnosed with common variable immunodeficiency 10 due to a mutation in the NFKB2 gene. Laboratory findings showed that all three patients presented hypogammaglobulinemia, reduced memory B cells and elevated naïve T lymphocytes and recent thymic emigrants. This feature, in the absence of glucocorticoid deficiency, may suggest a primary thymic dysfunction. Interestingly, the mother presented the worst immune phenotype, as regards both antibody production and NK function, indicating that immune function may deteriorate in the course of time. We conclude that close monitoring of immune functions may widen the knowledge on the CVID10 and improve the patients’ care.
KeywordsCommon variable immunodeficiency NFKB2 Recent thymic emigrants NK degranulation Autoimmunity
This work was supported by IRCCS Burlo Garofolo [Grant numbers RC 24/17 and RC 31/17]
Compliance with ethical standards
Conflict of interest
All the authors declare no conflicts of interest.
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