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Precision Medicine in the Treatment of Primary Immune Deficiency Patients With Disorders of Immune Dysregulation

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Abstract

There are now more than 450 described monogenic germline mutations for inborn errors of immunity that result in the loss of expression, loss of function (LOF), or gain in function (GOF) of the encoded protein. Molecular characterization of these inborn errors of immunity has not only allowed us to characterize on a genetic basis these immune deficiency disorders but has provided a better understanding of the immunobiology of these inborn errors of immunity. More recently, these advances have allowed us to apply targeted therapy or precision medicine in their treatment. Of particular interest related to this review are those inborn errors of immunity that result in gain-of-function (GOF) genetic abnormalities. Many of these inborn errors of immunity fall into a new category referred to as diseases of immune dysregulation in which many of the patients not only exhibit an increased susceptibility to infection but also have a clinical phenotype associated with autoimmune processes and lymphoproliferative disease.

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Funding

JWL receives grant funding from Horizon Pharma.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Allergy & Immunology, Morsani College of Medicine, Johns Hopkins All Children’s Hospital, 4th floor, 140 7th Ave South, St Petersburg, FL, 33701-4899, USA

    Mark Ballow & Jennifer W. Leiding

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  1. Mark Ballow
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  2. Jennifer W. Leiding
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Correspondence to Mark Ballow.

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Both authors gave their consent to publish this manuscript.

Conflict of Interest

MB has no conflicts of interest related to the subject of this manuscript; J. W. Leiding is a paid speaker for CSL-Behring and Horizon Pharma and is on the Advisory Board for CSL Behring and Horizon Pharma.

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Ballow, M., Leiding, J.W. Precision Medicine in the Treatment of Primary Immune Deficiency Patients With Disorders of Immune Dysregulation. Clinic Rev Allerg Immunol 63, 1–8 (2022). https://doi.org/10.1007/s12016-021-08871-4

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  • DOI: https://doi.org/10.1007/s12016-021-08871-4

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