Advertisement

Inflammation Research

, Volume 68, Issue 11, pp 901–904 | Cite as

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes

  • Elisa PiscianzEmail author
  • Ester Conversano
  • Anna Monica Bianco
  • Flavio Faletra
  • Alberto Tommasini
  • Erica Valencic
Letter to the Editor

Abstract

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.

Keywords

Common variable immunodeficiency NFKB2 Recent thymic emigrants NK degranulation Autoimmunity 

Notes

Acknowledgements

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.

References

  1. 1.
    Chen K, Coonrod EM, Kumánovics A, Franks ZF, Durtschi JD, Margraf RL, et al. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet. 2013.  https://doi.org/10.1016/j.ajhg.2013.09.009.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Lee CE, Fulcher DA, Whittle B, Chand R, Fewings N, Field M, et al. Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. Blood. 2014.  https://doi.org/10.1182/blood-2014-06-578542.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Brue T, Quentien MH, Khetchoumian K, Bensa M, Capo-Chichi JM, Delemer B, et al. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC Med Genet. 2014.  https://doi.org/10.1186/s12881-014-0139-9.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Oh H, Ghosh S. NF-κB: roles and regulation in different CD4(+) T-cell subsets. J Immunol Rev. 2013.  https://doi.org/10.1111/imr.12033.CrossRefGoogle Scholar
  5. 5.
    Lougaris V, Tabellini G, Vitali M, Baronio M, Patrizi O, Tampella G, et al. Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease. J Allergy Clin Immunol. 2015.  https://doi.org/10.1016/j.jaci.2014.11.038.CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Montin D, Licciardi F, Giorgio E, Ciolfi A, Pizzi S, Mussa A, et al. Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients. Immunol Lett. 2018.  https://doi.org/10.1016/j.imlet.2017.12.006.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”TriesteItaly
  2. 2.University of TriesteTriesteItaly

Personalised recommendations