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Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation
| Content Provider | MDPI |
|---|---|
| Author | Karolina, Pieniawska-Śmiech Aleksandra, Lewandowicz-Uszyńska Pasternak, Gerard Jutel, Marek |
| Copyright Year | 2022 |
| 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. |
| Starting Page | 4220 |
| e-ISSN | 20770383 |
| DOI | 10.3390/jcm11144220 |
| Journal | Journal of clinical medicine |
| Issue Number | 14 |
| Volume Number | 11 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2022-07-20 |
| Access Restriction | Open |
| Subject Keyword | Journal of clinical medicine Journal of Clinical Medicine Infectious Diseases Allergy Autoimmunity Autoimmune Lymphoproliferative Syndrome Inborn Errors of Immunity Lymphoproliferation Malignancy Primary Immunodeficiency |
| Content Type | Text |
| Resource Type | Article |
