The complement system I: innate defects of complement cascade proteins excluding hereditary angioedema
Authors:
Z. Chovancová; R. Hakl; J. Litzman
Authors place of work:
Ústav klinické imunologie a alergologie, Fakultní nemocnice u sv. Anny v Brně, Lékařská fakulta Masarykovy univerzity, Brno
Published in the journal:
Čes-slov Pediat 2021; 76 (4): 211-217.
Category:
Summary
The complement system consists of more than 50 soluble and membrane-bound proteins. It is a crucial part of the innate immune system. Individual components of the complement cascade are cleaved during the activation process into smaller fragments with specific biological functions. Activation of complement cascade is finished by formation of a membrane-attacking complex associated with lysis of the target cell. The main functions of the complement system include opsonization, chemotaxis, and clearance of immunocomplexes and apoptotic cells.
Congenital disorders of the complement system are very rare diseases. The patients are prone to recurrent infections caused mainly by encapsulated microorganisms (pneumococcus, meningococcus, haemophilus and staphylococus) and most of them develop systemic autoimmune diseases (resembling systemic lupus erythematosus) during their lifetime. The secondary decrease of complement components may be caused by decreased liver production of complement components, excessive or prolonged activation of the immune system as a result of various immunopathological conditions or because of the formation of autoantibodies against the complement components. Basic therapeutic approaches include vaccination against meningococcus, pneumococcus and haemophilus and antibiotic prophylaxis.
Keywords:
complement system – inborn errors of complement system – encapsulated bacteria – autoimmune disorders
Zdroje
1. Schröder-Braunstein J, Kirschfink M. Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. Mol Immunol 2019; 114: 299–311.
2. Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020; 40 (1): 24–64.
3. Brodszki N, Frazer-Abel A, Grumach AS, et al. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management. J Clin Immunol 2020; 40 (4): 576–591.
4. Ram S, Lewis LA, Rice PA. Infections of people with complement deficiencies and patients who have undergone splenectomy. Clin Microbiol Rev 2010; 23 (4): 740–780.
5. El Sissy C, Rosain J, Vieira-Martins P, et al. Clinical and genetic spectrum of a large cohort with total and sub-total complement deficiencies. Front Immunol 2019; 10: 1936.
6. Chen JY, Cortes C, Ferreira VP. Properdin: A multifaceted molecule involved in inflammation and diseases. Mol Immunol 2018; 102: 58–72.
7. Sastry K, Herman GA, Day L, et al. The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10. J Exp Med 1989; 170 (4): 1175–1189.
8. Turner MW. The role of mannose-binding lectin in health and disease. Mol Immunol 2003; 40 (7): 423–429.
9. Dahl M, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. A population-based study of morbidity and mortality in mannose-binding lectin deficiency. J Exp Med 2004; 199 (10): 1391–1399.
10. Hartz A, Pagel J, Humberg A, et al. The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants. PLoS One 2017; 12 (5): e0178032.
11. Heitzeneder S, Seidel M, Förster-Waldl E, Heitger A. Mannan--binding lectin deficiency – Good news, bad news, doesn‘t matter? Clin Immunol 2012; 143 (1): 22–38.
12. Özkan H, Köksal N, Çetinkaya M, et al. Serum mannose-binding lectin (MBL) gene polymorphism and low MBL levels are associated with neonatal sepsis and pneumonia. J Perinatol 2012; 32 (3): 210–217.
13. Šrotová A, Litzman J, Rumlarová Š, et al. Recurrent meningitis and inherited complement deficiency. Epidemiol Mikrobiol Imunol 2016; 65 (4): 238–242.
14. Holdaway J, Deacock S, Williams P, Karim Y. Mannose-binding lectin deficiency and predisposition to recurrent infection in adults. J Clin Pathol 2016; 69 (8): 731–736.
15. Santaella ML, Peredo R, Disdier OM. IgA deficiency: clinical correlates with IgG subclass and mannan-binding lectin deficiencies. P R Health Sci J 2005; 24 (2): 107–110.
16. Barton JC, Bertoli LF. Clinical and laboratory associations of mannose-binding lectin in 219 adults with IgG subclass deficiency. BMC Immunol 2019; 20 (1): 15.
17. Aittoniemi J, Koskinen S, Laippala P, et al. The significance of IgG subclasses and mannan-binding lectin (MBL) for susceptibility to infection in apparently healthy adults with IgA deficiency. Clin Exp Immunol 1999; 116 (3): 505–508.
18. Litzman J, Freiberger T, Grimbacher B, et al. Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency. Clin Exp Immunol 2008; 153 (3): 324–330.
19. Verdu P, Barreiro LB, Patin E, et al. Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. Hum Mol Genet 2006; 15 (17): 2650–2658.
20. Søborg C, Madsen HO, Andersen AB, et al. Mannose-binding lectin polymorphisms in clinical tuberculosis. J Infect Dis 2003; 188 (5): 777–782.
21. Santos IK, Costa CH, Krieger H, et al. Mannan-binding lectin enhances susceptibility to visceral leishmaniasis. Infect Immun 2001; 69 (8): 5212–5215.
22. Mandal RK, Khan MA, Hussain A, et al. Association of MBL2 gene polymorphisms with pulmonary tuberculosis susceptibility: trial sequence meta-analysis as evidence. Infect Drug Resist 2019; 12: 185–210.
23. Tong X, Wan Q, Li Z, et al. Association between the mannose--binding lectin (MBL)-2 gene variants and serum MBL with pulmonary tuberculosis: An update meta-analysis and systematic review. Microb Pathog 2019; 132: 374–380.
24. Gardner OK, Haynes K, Schweitzer D, et al. Familial recurrence of 3MC syndrome in consanguineous families: A clinical and molecular diagnostic approach with review of the literature. Cleft Palate Craniofac J 2017; 54 (6): 739–748.
25. Schlapbach LJ, Aebi C, Otth M, et al. Deficiency of mannose--binding lectin-associated serine protease-2 associated with increased risk of fever and neutropenia in pediatric cancer patients. Pediatr Infect Dis J 2007; 26 (11): 989–994.
26. Troldborg A, Steffensen R, Trendelenburg M, et al. Ficolin-3 deficiency is associated with disease and an increased risk of systemic lupus erythematosus. J Clin Immunol 2019; 39 (4): 421-429.
27. Lewis LA, Ram S. Meningococcal disease and the complement system. Virulence 2014; 5 (1): 98–126.
28. Ekdahl KN, Persson B, Mohlin C, et al. Interpretation of serological complement biomarkers in disease. Front Immunol 2018; 9: 2237.
29. West CD, Witte DP, McAdams AJ. Composition of nephritic factor-generated glomerular deposits in membranoproliferative glomerulonephritis type 2. Am J Kidney Dis 2001; 37 (6): 1120–1130.
30. Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore) 2004; 83 (1): 18–34.
31. Castelli R, Zanichelli A, Cicardi M, Cugno M. Acquired C1-inhibitor deficiency and lymphoproliferative disorders: a tight relationship. Crit Rev Oncol Hematol 2013; 87 (3): 323–332.
32. Guo WY, Song D, Liu XR, et al. Immunological features and functional analysis of anti-CFH autoantibodies in patients with atypical hemolytic uremic syndrome. Pediatr Nephrol 2019; 34 (2): 269–281.
33. Turley AJ, Gathmann B, Bangs C, et al. Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe. J Clin Immunol 2015; 35 (2): 199–205.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2021 Číslo 4
- What Effect Can Be Expected from Limosilactobacillus reuteri in Mucositis and Peri-Implantitis?
- The Importance of Limosilactobacillus reuteri in Administration to Diabetics with Gingivitis
Najčítanejšie v tomto čísle
- Autoinflammatory diseases in the paediatric praxis – case series
- MUDr. Pavel Frühauf, CSc., emeritní primář, sedmdesátníkem
- Congenital neutropenia in children
- The complement system I: innate defects of complement cascade proteins excluding hereditary angioedema