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Cited by 111Immunodeficiency and Autoimmune DisordersT-cell and B-cell ImmunologyAutoimmune and Inflammatory Disorders Research

Primary immune regulatory disorders: a growing universe of immune dysregulation

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Chan, Alice Y., Torgerson, Troy R.·2020·Current Opinion in Allergy & Clinical Immunology
DOI 10.1097/aci.0000000000000689PMC PMC7769114
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Abstract

Purpose of review: Primary immune regulatory disorders (PIRD) are a growing subset of diseases referred to as inborn errors of immunity. Unlike classical primary immune deficiency disorders that typically present with severe, recurrent, or unusual infections, the clinical manifestations of PIRD are dominated by immune-mediated diseases (autoimmunity, autoinflammation/hyperinflammation, lymphoproliferation, malignancy, and severe atopy). This review introduces the concept of PIRD including clinical phenotypes, treatments, and new PIRD-associated gene defects. Recent findings: The number of genetic defects associated with PIRD is rapidly growing. The identified genes often encode proteins that play critical roles in regulating the immune response to various triggers. Understanding the molecular mechanisms underlying PIRD has shed light on the clinical phenotypes and has helped to identify targeted therapies. In some cases, hematopoietic cell transplant (HCT) has been successfully employed as a cure. Summary: It is important to recognize the broad clinical manifestations of PIRD as patients may have symptoms atypical of classical ‘immunodeficiency’. Because of their diverse immune dysregulation problems, they are often primarily managed by other subspecialists. Immunologists can help connect the diverse immune-mediated pathologies to a gene defect. This, in turn, can play a significant role in directing clinical management, selecting effective therapy, and deciding on appropriateness of HCT.

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  • Cells of the innate and adaptive immune systems depend on proper actin dynamics to control effective immune responses.

    “Cells of the innate and adaptive immune systems depend on proper actin dynamics to control effective responses, which is highlighted by inborn errors of immunity (IEI) affecting actin networks, known as actinopathies (reviewed in [3–7]).”

    From HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions (2022) · cites this paper as [5]

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Cited by

Sorted by citations

Authors
Chan, A. Y., & Torgerson, T. R.
Affiliations
  • University of California, San Francisco (US)
  • University of Washington (US)
Corresponding author
Chan, Alice Y.
ORCID
Venue
Current Opinion in Allergy & Clinical Immunology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2020-09-15
Volume
20
Issue
6
Pages
582-590
ISSN
  • 1473-6322 (ISSN-L)
  • 1528-4050
DOI
10.1097/aci.0000000000000689
PMC
PMC7769114
OpenAlex
W3087725160
Cited by
111
References
0
Citations by year
2026: 21 · 2025: 16 · 2024: 24 · 2023: 15 · 2022: 18 · 2021: 13 · 2020: 2
FWCI
1.19
Type
journal article
Language
en
Open access
Locations
  • Current Opinion in Allergy and Clinical Immunology (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
National Institute of Allergy and Infectious Diseases (U54AI082973, K08AI137301)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
  • Health Sciences › Medicine › Hematology › Autoimmune and Inflammatory Disorders Research
Keywords
primary immunodeficiency, immune dysregulation, autoimmunity, autoinflammation, lymphoproliferation, atopy, genetic disorders, hematopoietic stem cell transplantation, targeted therapy, clinical phenotype
MeSH terms
Primary Immunodeficiency Diseases, Homeostasis, Humans, Immune System, Immunity, Phenotype, Autoimmunity, Hematopoietic Stem Cell Transplantation, Molecular Targeted Therapy

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