Encyclopedia of Medical Immunology

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

C1 Deficiency and Associated Disorders

  • Berhane GhebrehiwetEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_11-1

Introduction

The complement system is a strictly regulated and highly complex effector system whose major function is to recognize and eliminate pathogens as well as altered self-antigens. Therefore, it constitutes a very powerful arm of the innate and adaptive immune systems with unique ability to discriminate self from nonself and eliminate “danger” through a wide array of processes that include phagocytosis and cytolytic mechanisms. Although there are three interdependent pathways of complement activation – classical, alternative, and lectin – only the role of the classical pathway and the consequences of deficiency in any of the components that initially trigger its activation are discussed here. The first component of complement (Table 1) is a multimolecular complex comprising of one molecule of C1q and the Ca 2+-dependent tetramer – C1r-C1s-C1s-C1r – which give rise to the pentameric complex: C1q.C1r 2.C1s 2found in plasma. Each molecule within this complex plays a sequential and...
This is a preview of subscription content, log in to check access.

References

  1. Amano MT, Ferriani VP, Florido MP, Resis ES, Delcolli MI, Azzolini AE, et al. Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene. Mol Immunol. 2008;45:1693–702.CrossRefPubMedGoogle Scholar
  2. Arlaud GJ, Gaboriaud C, Thielens NM, Rossi V, Bersch B, Hernandez J-F, et al. Structural biology of C1: dissection of a complex molecular machinery. Immunol Rev. 2001;180:136–45.CrossRefPubMedGoogle Scholar
  3. Calcott MA, Muller-Eberhard HJ. C1q protein of human complement. Biochemistry. 1972;11:3443–50.CrossRefPubMedGoogle Scholar
  4. Cooper NR. The classical complement pathway: activation and regulation of the first complement component. Adv Immunol. 1985;37:151–216.CrossRefPubMedGoogle Scholar
  5. Day NK, Geiger H, Stroud R, de Bracco M, Mancado B, Windhorst D, Good RA. C1r deficiency: an inborn error associated with cutaneous and renal disease. J Clin Investig. 1971;51:1102–8.CrossRefGoogle Scholar
  6. Gaboriaud C, Païdassi H, Frachet P, Tacnet-Delorme P, Thielens NM, Arlaud GJ. C1q: a versatile pattern recognition molecule and sensor of altered self. In: Kilpatrick D, editor. Collagen-related lectins in innate immunity (Research Signpost), vol. 81; 2007. p. 1–15.Google Scholar
  7. Ghebrehiwet B, Lim BL, Kumar R, Feng X, Peerschke EI. gC1q-R/p33, a member of a new class of multifunctional and multicompartmental cellular proteins, is involved in inflammation and infection. Immunol Rev. 2001;180:65–77.CrossRefPubMedGoogle Scholar
  8. Ghebrehiwet B, Hosszu K, Valentino A, Peerschke EIB. The C1q family of proteins: insights into the emerging non-traditional functions. Front Immunol. 2012;3.pii:52.3:1–9.Google Scholar
  9. Hong Q, Sze C-I, Lin S-R, Lee M-H, He R-Y, Schultz L, Chang J-Y, Chen S-J, Boackle RJ, Hsu L-J, Chang N-S. Complement C1q activates tumor suppressor WWOX to induce apoptosis in prostate cancer cells. PLoS One. 2009;4(6):e5755.CrossRefPubMedPubMedCentralGoogle Scholar
  10. Lahita RG. Systemic lupus erythematosus. Third ed. NY: Academic Press, New York; 1999.Google Scholar
  11. McAdam RA, Goundis D, Reid KBM. A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q deficient individual. Immunogenetics. 1988;27:259–64.CrossRefPubMedGoogle Scholar
  12. Païdassi H, Tacnet P, Garlatti V, Darnault C, Ghebrehiwet B, Gaboriaud C, Arlaud GJ, Frachet P. C1q binds phosphatidylserine and likely acts as a multiligand bridging molecule in apoptotic cell recognition. J Immunol. 2008;180:2329–38.CrossRefPubMedPubMedCentralGoogle Scholar
  13. Pickering MC, Botto M, Taylor PR, Lachmann PJ, Walport MJ. Systemic lupus erythematosus, complement deficiency, and apoptosis. Adv Immunol. 2000;76:227–34.CrossRefPubMedGoogle Scholar
  14. Reid KBM. Molecular cloning and characterization of the complementary DNA and gene coding for the B chain subcomponent C1q of the human complement system. Biochem J. 1985;231:729–35.CrossRefPubMedPubMedCentralGoogle Scholar
  15. Sellar GC, Blake DJ, Reid KBM. Characterization and organization of the genes encoding the A-, B-, and C- chains of human complement subcomponent C1q. Biochem J. 1991;274:481–91.CrossRefPubMedPubMedCentralGoogle Scholar
  16. Shapiro L, Scherer PE. The crystal structure of a complement-1q family of protein suggests an evolutionary link to tumor necrosis factor. Curr Biol. 1998;8:335–8.CrossRefPubMedGoogle Scholar
  17. Shelton E, Yonemasu K, Stroud RM. Ultrastructure of the human complement component C1q. Proc Natl Acad Sci U S A. 1972;69:65–8.CrossRefPubMedPubMedCentralGoogle Scholar
  18. Singh J, Ahmed A, Girardi G. Role of complement component C1q in the onset of preeclampsia in mice. Hypertension. 2011;58:716–24.CrossRefPubMedGoogle Scholar
  19. Skattum L, van Deuren M, van der Poll T, Truedson L. Complement deficiency states and associated infections. Mol Immunol. 2011;48:1643–55.CrossRefPubMedGoogle Scholar
  20. Stephan AH, Madison DV, Mateos JM, Fraser DA, Lovelett EA, Coutellier L, Kim L, Tsai H-H, Huang EJ, Rowitch DH, Berns DS, Tenner AJ, Shamloo M, Barres BA. A dramatic increase of C1q protein in the CNS during normal aging. J Neurosci. 2013;33:13460–74.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media LLC 2016

Authors and Affiliations

  1. 1.The Department of MedicineStony Brook UniversityNew YorkUSA
  2. 2.Health Sciences CenterStony Brook University School of MedicineNew YorkUSA

Section editors and affiliations

  • Kathleen Sullivan
    • 1
  1. 1.University of PennsylvaniaPhiladelphiaUSA