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Cited by 214Immunodeficiency and Autoimmune DisordersBlood disorders and treatmentsT-cell and B-cell Immunology

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

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Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro +10 more·2021·Journal of Clinical Immunology
DOI 10.1007/s10875-021-00980-1PMC PMC7889474
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Abstract

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

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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 [6]

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Cited by

Sorted by citations

Authors
Tangye, S. G., Al-Herz, W., Bousfiha, A., Cunningham-Rundles, C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Picard, C., Puel, A., Puck, J., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R., & Meyts, I.
Affiliations
  • Garvan Institute of Medical Research (AU)
  • University of Hassan II Casablanca (MA)
  • National Institutes of Health (US)
  • Ludwig-Maximilians-Universität München (DE)
  • Tokyo Medical and Dental University (JP)
  • Inserm (FR)
  • University of California, San Francisco (US)
  • University of Helsinki (FI)
  • Sheba Medical Center (IL)
  • Children's Hospital of Philadelphia (US)
  • Allen Institute for Immunology (US)
  • Universitair Ziekenhuis Leuven (BE)
Corresponding author
Tangye, Stuart G.
ORCID
Venue
Journal of Clinical Immunology
Publisher
Springer Science and Business Media LLC
Published
2021-02-18
Volume
41
Issue
3
Pages
666-679
ISSN
  • 0271-9142 (ISSN-L)
  • 1573-2592
DOI
10.1007/s10875-021-00980-1
PMC
PMC7889474
OpenAlex
W3130737731
Cited by
214
References
0
Citations by year
2026: 7 · 2025: 10 · 2024: 18 · 2023: 31 · 2022: 106 · 2021: 42
FWCI
18.27
Type
journal article
Language
en
Open access
Licence
Locations
  • Journal of Clinical Immunology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Institutional Repository University of Antioquia (University of Antioquia) (publishedVersion, cc-by)
  • Lirias (submittedVersion, other-oa)
  • eScholarship (California Digital Library) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
  • Työväentutkimus Vuosikirja (submittedVersion)
  • Greater South Information System
Funders
  • CSL Behring
  • Baxalta
  • Fonds Wetenschappelijk Onderzoek (EBD-D8974-FKM)
  • Vlaamse regering
  • National Institutes of Health
  • Medical Research Council
  • National Health and Medical Research Council
  • National Institute of Allergy and Infectious Diseases (P01AI061093)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
  • Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
Keywords
primary immunodeficiency, genetic variants
MeSH terms
Primary Immunodeficiency Diseases, COVID-19, Alleles, Diagnosis, Differential, Genotype, Humans, Immunity, Phenotype, Risk Factors, Disease Management, Genetic Predisposition to Disease, Inheritance Patterns, Genetic Association Studies, Public Health Surveillance

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