Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

B-Actin Deficiency

  • Raz SomechEmail author
  • Tali Stauber
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_143-1



Beta-actin (ACTB), one of the actin isoforms, is an important cytoskeletal protein. Mutations in the ACTB gene were found in Baraitser-Winter cerebrofrontofacial syndrome. In one patient, immunodeficiency of neutrophils was identified.


Actins are a family of highly conserved cytoskeletal proteins that play fundamental roles in nearly all aspects of eukaryotic cell biology. The ability of a cell to divide, move, endocytose, generate contractile force, and maintain shape is reliant upon functional actin-based structures. The importance of the cytoskeleton in mounting a successful immune response is evident from the wide range of defects that occur in actin-related primary immunodeficiencies (PIDs). Actin isoforms are grouped according to expression patterns: muscle actins predominate in striated and smooth muscle (ACTA1 and ACTA2, respectively), whereas the two cytoplasmic non-muscle actins,...

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© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Pediatric Department, Allergy and the Immunology Services, “Edmond and Lily Safra” Children’s HospitalSackler School of Medicine, Tel Aviv UniversityTel AvivIsrael
  2. 2.Jeffrey Modell Foundation CenterSackler School of Medicine, Tel Aviv UniversityTel AvivIsrael
  3. 3.Sheba Medical Center, Tel HashomerSackler School of Medicine, Tel Aviv UniversityTel AvivIsrael

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Institute of Biomedical SciencesUniversity of São PauloSão PauloBrasil