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

Synonyms

Definition

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.

Introduction

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,...

This is a preview of subscription content, log in to check access.

References

  1. Hundt N, Preller M, Swolski O, Ang AM, Mannherz HG, Manstein DJ, Müller M. Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K. FEBS J. 2014;281(23):5279–91.CrossRefGoogle Scholar
  2. Moulding DA, Record J, Malinova D, Thrasher AJ. Actin cytoskeletal defects in immunodeficiency. Immunol Rev. 2013;256(1):282–99. Erratum in: Immunol Rev. 2016;271(1):293CrossRefGoogle Scholar
  3. Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, Kanegasaki S. A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Proc Natl Acad Sci U S A. 1999;96(15):8693–8.CrossRefGoogle Scholar
  4. Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet. 2006;78(6):947–60.CrossRefGoogle Scholar
  5. Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O’Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. Nat Genet. 2012;44(4):440–4, S1–2.CrossRefGoogle Scholar
  6. Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Eur J Hum Genet. 2015;23(3):292–301.Google Scholar

Copyright information

© 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