Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation
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 lymphoprolife...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/14/4220 |
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| author | Karolina Pieniawska-Śmiech Gerard Pasternak Aleksandra Lewandowicz-Uszyńska Marek Jutel |
| author_facet | Karolina Pieniawska-Śmiech Gerard Pasternak Aleksandra Lewandowicz-Uszyńska Marek Jutel |
| author_sort | Karolina Pieniawska-Śmiech |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T10:16:57Z |
| format | Article |
| id | doaj.art-009133ae08ea4c55bef61e32ca186bf5 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T10:16:57Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-009133ae08ea4c55bef61e32ca186bf52023-12-01T22:18:40ZengMDPI AGJournal of Clinical Medicine2077-03832022-07-011114422010.3390/jcm11144220Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune DysregulationKarolina Pieniawska-Śmiech0Gerard Pasternak1Aleksandra Lewandowicz-Uszyńska2Marek Jutel3Department of Clinical Immunology, Wroclaw Medical University, 50-368 Wroclaw, PolandDepartment of Clinical Immunology and Paediatrics, Provincial Hospital J. Gromkowski, 51-149 Wroclaw, PolandDepartment of Clinical Immunology and Paediatrics, Provincial Hospital J. Gromkowski, 51-149 Wroclaw, PolandDepartment of Clinical Immunology, Wroclaw Medical University, 50-368 Wroclaw, PolandInborn 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.https://www.mdpi.com/2077-0383/11/14/4220allergyautoimmunityautoimmune lymphoproliferative syndromeinborn errors of immunitylymphoproliferationmalignancy |
| spellingShingle | Karolina Pieniawska-Śmiech Gerard Pasternak Aleksandra Lewandowicz-Uszyńska Marek Jutel Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation Journal of Clinical Medicine allergy autoimmunity autoimmune lymphoproliferative syndrome inborn errors of immunity lymphoproliferation malignancy |
| title | Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation |
| title_full | Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation |
| title_fullStr | Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation |
| title_full_unstemmed | Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation |
| title_short | Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation |
| title_sort | diagnostic challenges in patients with inborn errors of immunity with different manifestations of immune dysregulation |
| topic | allergy autoimmunity autoimmune lymphoproliferative syndrome inborn errors of immunity lymphoproliferation malignancy |
| url | https://www.mdpi.com/2077-0383/11/14/4220 |
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