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Review
. 2022 Jul 20;11(14):4220.
doi: 10.3390/jcm11144220.

Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation

Karolina Pieniawska-Śmiech  1   2 , Gerard Pasternak  2   3 , Aleksandra Lewandowicz-Uszyńska  2   3 , Marek Jutel  1   4
Affiliations
Review

Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation

Karolina Pieniawska-Śmiech et al. J Clin Med. .

Abstract

Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders (PIDs), are inherited disorders caused by damaging germline variants in single genes, which result in increased susceptibility to infections and in allergic, autoimmune, autoinflammatory, nonmalignant lymphoproliferative, and neoplastic conditions. Along with well-known warning signs of PID, attention should be paid to signs of immune dysregulation, which seem to be equally important to susceptibility to infection in defining IEI. The modern diagnostics of IEI offer a variety of approaches but with some problems. The aim of this review is to discuss the diagnostic challenges in IEI patients in the context of an immune dysregulation background.

Keywords: allergy; autoimmune lymphoproliferative syndrome; autoimmunity; inborn errors of immunity; lymphoproliferation; malignancy; primary immunodeficiency.

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Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Tangye S.G., Al-Herz W., Bousfiha A., Cunningham-Rundles C., Franco J.L., Holland S.M., Klein C., Morio T., Oksenhendler E., Picard C. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J. Clin. Immunol. 2022:1–35. doi: 10.1007/s10875-022-01289-3. - DOI - PMC - PubMed
    1. Bousfiha A., Jeddane L., Picard C., Al-Herz W., Ailal F., Chatila T., Cunningham-Rundles C., Etzioni A., Franco J.L., Holland S.M., et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J. Clin. Immunol. 2020;40:66–81. doi: 10.1007/s10875-020-00758-x. - DOI - PMC - PubMed
    1. Asano T., Boisson B., Onodi F., Matuozzo D., Moncada-Velez M., Maglorius Renkilaraj M., Zhang P., Meertens L., Bolze A., Materna M., et al. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Sci. Immunol. 2021;6:eabl4348. doi: 10.1126/sciimmunol.abl4348. - DOI - PMC - PubMed
    1. Solé D. Primary immunodeficiencies: A diagnostic challenge? J. Pediatr. 2021;97((Suppl. S1)):S1–S2. doi: 10.1016/j.jped.2020.12.002. - DOI - PMC - PubMed
    1. Ponsford M.J., Klocperk A., Pulvirenti F., Dalm V., Milota T., Cinetto F., Chovancova Z., Rial M.J., Sediva A., Litzman J., et al. Hyper-IgE in the allergy clinic—When is it primary immunodeficiency? Allergy. 2018;73:2122–2136. doi: 10.1111/all.13578. - DOI - PubMed

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