Diagnostic Modalities in Primary Immunodeficiency

As the field of inborn errors of immunity expands, providers continually update and fine-tune their diagnostic approach and selection of testing modalities to increase diagnostic accuracy. Here, we first describe a mechanistic consideration of laboratory testing, highlighting both benefits and drawb...

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Bibliographic Details
Published in:	Clinical reviews in allergy & immunology Vol. 63; no. 1; pp. 90 - 98
Main Authors:	Raymond, Loveita S., Leiding, Jennifer, Forbes-Satter, Lisa R.
Format:	Journal Article
Language:	English
Published:	New York Springer US 01-08-2022 Springer Springer Nature B.V
Subjects:	Allergology Antibodies Antigens Bacterial infections Development and progression Disease DNA sequencing Enumeration Etiology Exome Sequencing Family medical history Flow cytometry Genes Genetic screening Genetic Testing - methods Genomes Genomics Humans Immune system Immunoassay Immunodeficiency Immunoglobulins Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Immunology Immunoregulation Infections Innate immunity Internal Medicine Laboratories Medicine Medicine & Public Health Mutation Nucleotide sequencing Patients Primary immunodeficiencies Proteins Reagents Viral antibodies Whole Genome Sequencing Evaluation Immune dysregulation Diagnostic modalities Inborn errors of immunity Immunodeficiency Testing
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Summary:	As the field of inborn errors of immunity expands, providers continually update and fine-tune their diagnostic approach and selection of testing modalities to increase diagnostic accuracy. Here, we first describe a mechanistic consideration of laboratory testing, highlighting both benefits and drawbacks of currently clinically available testing modalities. Next, we provide methods in evaluation of patients presenting with concern for inborn errors of immunity as defined by the International Union of Immunological Societies 2019 phenotypic categories: primary antibody deficiencies, cellular and humoral immune deficiency, disorders of the innate immune system, and syndrome-associated and primary immune regulation disorders (PIRDs). Using the suggested approach in this paper as a roadmap highlights the importance of thorough history taking and physical examination as the foundation to guide further diagnostic tests. This is followed by enumeration and functional testing. Finally, to determine the underlying molecular etiology-specific genetic panels, chromosomal microarrays, and broad genetic testing (whole exome sequencing or whole genome sequencing) are available.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	1559-0267 1080-0549 1559-0267
DOI:	10.1007/s12016-022-08933-1