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Diagnostic Modalities in Primary Immunodeficiency

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Abstract

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.

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Funding

Jeffrey Modell Foundation Dr. Forbes Satter.

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Authors and Affiliations

  1. Department of Medicine, Baylor College of Medicine, Houston, USA

    Loveita S. Raymond & Lisa R. Forbes-Satter

  2. Department of Pediatrics, John’s Hopkins University, All Children’s Hospital, Baltimore, USA

    Jennifer Leiding & Lisa R. Forbes-Satter

  3. William T. Shearer Center for Human Immunobiology, Texas Children’s Hospital, Houston, USA

    Loveita S. Raymond & Lisa R. Forbes-Satter

Authors
  1. Loveita S. Raymond
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  2. Jennifer Leiding
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  3. Lisa R. Forbes-Satter
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Dr. Raymond wrote the paper, Dr. Leiding made edits and contributed to the content as an expert, and Dr. Forbes Satter wrote, edited, and contributed to the content as an expert.

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Correspondence to Lisa R. Forbes-Satter.

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Competing Interests

Dr. Forbes Satter: consulting and advisory board for Horizon, CSL Behring, Takeda, and ADMA. Dr. Leiding: Advisory Board: CSL-Behring, Horizon Therapeutics, Orchard Therapeutics; Consultant: Pharming; Research Grant: Prometic, Horizon Pharma; Speaker: Actimmune, CSL-Behring, Horizon Therapeutics.

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Raymond, L.S., Leiding, J. & Forbes-Satter, L.R. Diagnostic Modalities in Primary Immunodeficiency. Clinic Rev Allerg Immunol 63, 90–98 (2022). https://doi.org/10.1007/s12016-022-08933-1

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