Diagnostic tests for primary immunodeficiency disorders: Classic and genetic testing
Issued Date
2024-09-01
Resource Type
eISSN
15396304
Scopus ID
2-s2.0-85204417669
Pubmed ID
39294902
Journal Title
Allergy and asthma proceedings
Volume
45
Issue
5
Start Page
355
End Page
363
Rights Holder(s)
SCOPUS
Bibliographic Citation
Allergy and asthma proceedings Vol.45 No.5 (2024) , 355-363
Suggested Citation
Klangkalya N., Fleisher T.A., Rosenzweig S.D. Diagnostic tests for primary immunodeficiency disorders: Classic and genetic testing. Allergy and asthma proceedings Vol.45 No.5 (2024) , 355-363. 363. doi:10.2500/aap.2024.45.240051 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/101359
Title
Diagnostic tests for primary immunodeficiency disorders: Classic and genetic testing
Author(s)
Corresponding Author(s)
Other Contributor(s)
Abstract
Primary immunodeficiency diseases encompass a variety of genetic conditions characterized by a compromised immune system and typically results in increased susceptibility to infection. In fact, they also manifest as autoimmunity, autoinflammation, atopic diseases, and malignancy. Currently, the number of recognized monogenic primary immunodeficiency disorders is set at ∼500 different entities, owing to the exponential use of unbiased genetic testing for disease discovery. In addition, the prevalence of secondary immunodeficiency has also been on the rise due to the increased use of immunosuppressive drugs to treat diseases based on immune dysregulation, an increase in the number of individuals undergoing hematopoietic stem cell transplantation, and other chronic medical conditions, including autoimmunity. Although the clinical symptoms of immunodeficiency disorders are broad, an early diagnosis and tailored management strategies are essential to mitigate the risk of infections and prevent disease-associated morbidity. Generally, the medical history and physical examination can provide useful information that can help delineate the possibility of immune defects. In turn, this makes it feasible to select focused laboratory tests that identify immunodeficiency disorders based on the specific immune cells and their functions or products that are affected. Laboratory evaluation involves quantitative and functional classic testing (e.g., leukocyte counts, serum immunoglobulin levels, specific antibody titers in response to vaccines, and enumeration of lymphocyte subsets) as well as genetic testing (e.g., individual gene evaluation via Sanger sequencing or unbiased evaluation based on next-generation sequencing). However, in many cases, a diagnosis also requires additional advanced research techniques to validate genetic or other findings. This article updates clinicians about available laboratory tests for evaluating the immune system in patients with primary immunodeficiency disorders. It also provides a comprehensive list of testing options, organized based on different components of host defense.
