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Cited by 77Immunodeficiency and Autoimmune DisordersInflammasome and immune disordersAutoimmune and Inflammatory Disorders Research

Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation

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Papa, Riccardo, Penco, Federica, Volpi, Stefano, Gattorno, Marco·2021·Frontiers in Immunology
DOI 10.3389/fimmu.2020.604206PMC PMC7817698
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Abstract

A growing number of monogenic immune-mediated diseases have been related to genes involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate cytoskeleton defects to autoinflammatory diseases and primary immunodeficiencies. We reviewed the pathways of actin cytoskeleton remodeling in order to identify inflammatory and immunological manifestations associated to pathological variants. We list more than twenty monogenic diseases, ranging from pure autoinflammatory conditions as familial Mediterranean fever, mevalonate kinase deficiency and PAPA syndrome, to classic and novel primary immunodeficiencies as Wiskott-Aldrich syndrome and DOCK8 deficiency, characterized by the presence of concomitant inflammatory and autoimmune manifestations, such as vasculitis and cytopenia, to severe and recurrent infections. We classify these disorders according to the role of the mutant gene in actin cytoskeleton remodeling, and in particular as disorders of transcription, elongation, branching and activation of actin. This expanding field of rare immune disorders offers a new perspective to all immunologists to better understand the physiological and pathological role of actin cytoskeleton in cells of innate and adaptive immunity.

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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 [3]

  • Dysregulated actin networks cause recurrent infections often coupled with autoinflammation, autoimmunity, and atopic disease in inborn errors of immunity such as Wiskott Aldrich syndrome, DOCK8 deficiency, and X-linked moesin-associated immune deficiency.

    “Dysregulated actin networks cause recurrent infections often coupled with autoinflammation, autoimmunity, and atopic disease in IEIs such as Wiskott Aldrich syndrome, DOCK8 deficiency, and X-linked moesin-associated immune deficiency [3].”

    From HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions (2022) · cites this paper as [3]

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Cited by

Sorted by citations

Authors
Papa, R., Penco, F., Volpi, S., & Gattorno, M.
Affiliations
Istituto Giannina Gaslini (IT)
Corresponding author
Gattorno, Marco
ORCID
Venue
Frontiers in Immunology
Publisher
Frontiers Media SA
Published
2021-01-07
Volume
11
Pages
604206-604206
ISSN
1664-3224 (ISSN-L)
DOI
10.3389/fimmu.2020.604206
PMC
PMC7817698
OpenAlex
W3118832381
Cited by
77
References
2
Citations by year
2026: 4 · 2025: 13 · 2024: 20 · 2023: 15 · 2022: 16 · 2021: 9
FWCI
1.56
Type
journal article
Language
en
Open access
Licence
Locations
  • Frontiers in Immunology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion, other-oa)
Funders
Ministero della Salute
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Inflammasome and immune disorders
  • Health Sciences › Medicine › Hematology › Autoimmune and Inflammatory Disorders Research
Keywords
actin cytoskeleton remodeling, autoinflammatory disease, primary immunodeficiency, familial Mediterranean fever, mevalonate kinase deficiency, PAPA syndrome, Wiskott-Aldrich syndrome, DOCK8 deficiency, vasculitis, cytopenia, recurrent infections, innate immunity, actin filament branching, actin activation
MeSH terms
Animals, Humans, Immunologic Deficiency Syndromes, Inflammation, Actin Cytoskeleton, Mutation, Phenotype, Signal Transduction, Autoimmunity, Genetic Predisposition to Disease

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