Clinical significance of complement deficiencies

H. David Pettigrew, Suzanne S Teuber, M. Eric Gershwin

Research output: Chapter in Book/Report/Conference proceedingConference contribution

89 Scopus citations

Abstract

The complement system is composed of more than 30 serum and membrane-bound proteins, all of which are needed for normal function of complement in innate and adaptive immunity. Historically, deficiencies within the complement system have been suspected when young children have had recurrent and difficult-to-control infections. As our understanding of the complement system has increased, many other diseases have been attributed to deficiencies within the complement system. Generally, complement deficiencies within the classical pathway lead to increased susceptibility to encapsulated bacterial infections as well as a syndrome resembling systemic lupus erythematosus. Complement deficiencies within the mannose-binding lectin pathway generally lead to increased bacterial infections, and deficiencies within the alternative pathway usually lead to an increased frequency of Neisseria infections. However, factor H deficiency can lead to membranoproliferative glomerulonephritis and hemolytic uremic syndrome. Finally, deficiencies within the terminal complement pathway lead to an increased incidence of Neisseria infections. Two other notable complement-associated deficiencies are complement receptor 3 and 4 deficiency, which result from a deficiency of CD18, a disease known as leukocyte adhesion deficiency type 1, and CD59 deficiency, which causes paroxysmal nocturnal hemoglobinuria. Most inherited deficiencies of the complement system are autosomal recessive, but properidin deficiency is X-linked recessive, deficiency of C1 inhibitor is autosomal dominant, and mannose-binding lectin and factor I deficiencies are autosomal co-dominant. The diversity of clinical manifestations of complement deficiencies reflects the complexity of the complement system.

Original languageEnglish (US)
Title of host publicationAnnals of the New York Academy of Sciences
Pages108-123
Number of pages16
Volume1173
DOIs
StatePublished - Sep 2009

Publication series

NameAnnals of the New York Academy of Sciences
Volume1173
ISSN (Print)00778923
ISSN (Electronic)17496632

Keywords

  • Angioedema
  • C1 inhibitor
  • Lectin-binding pathway
  • Leukocyte adhesion deficiency
  • Mannose-binding lectin
  • MBL-associated serine protease-2
  • Membrane attack complex
  • Paroxysmal nocturnal hemoglobinuria
  • Properdin

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Pettigrew, H. D., Teuber, S. S., & Gershwin, M. E. (2009). Clinical significance of complement deficiencies. In Annals of the New York Academy of Sciences (Vol. 1173, pp. 108-123). (Annals of the New York Academy of Sciences; Vol. 1173). https://doi.org/10.1111/j.1749-6632.2009.04633.x