Primary complement C5 deficiencies - Molecular characterization and clinical review of two families

Immunobiology

Volumn 218, Issue 10, 2013, Pages 1304-1310

  Schejbel, Lone ^a   Fadnes, Dag ^b   Permin, Henrik ^c   Lappegård, Knut Tore ^d   Garred, Peter ^a   Mollnes, Tom Eirik ^d,e  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Førde Hospital   (Norway)

^c BISPEBJERG HOSPITAL   (Denmark)

^d NORDLAND HOSPITAL   (Norway)

^e OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

C5; Complement; Deficiency; Meningococcal infection

Indexed keywords

COMPLEMENT COMPONENT C5;

ADULT; ARTICLE; CASE REPORT; CAUCASIAN; COMPLEMENT ACTIVATION; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; DENMARK; FEMALE; GENETIC SCREENING; HOMOZYGOTE; HUMAN; MENINGOCOCCOSIS; MUTATIONAL ANALYSIS; NEISSERIA MENINGITIDIS; NEISSERIACEAE INFECTION; NORWAY; NUCLEOTIDE SEQUENCE; OTITIS MEDIA; PEDIGREE ANALYSIS; PNEUMONIA; PRIORITY JOURNAL; SEPSIS; SEPTICEMIA;

C5; COMPLEMENT; DEFICIENCY; MENINGOCOCCAL INFECTION;

ADOLESCENT; ADULT; CHILD; COMPLEMENT C5; DENMARK; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GRAM-NEGATIVE BACTERIAL INFECTIONS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MIDDLE AGED; MUTATION; NEISSERIA; NORWAY; PEDIGREE; PRACTICE GUIDELINES AS TOPIC; RISK;

EID: 84881030739     PISSN: 01712985     EISSN: 18783279     Source Type: Journal    
DOI: 10.1016/j.imbio.2013.04.021     Document Type: Article

References (35)

1. Aguilar-Ramirez P., Reis E.S., Florido M.P., Barbosa A.S., Farah C.S., Costa-Carvalho B.T., Isaac L. Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability. Mol. Immunol. 2009, 46:2116-2123.
2. Alachkar N., Bagnasco S.M., Montgomery R.A. Eculizumab for the treatment of two recurrences of atypical hemolytic uremic syndrome in a kidney allograft. Transpl. Int. 2012, 25:e93-e95.
3. Arnaout R., Al S.S., Al D.H., Al-Mousa H., Al G.A., Al S.B., Al M.S., Al B.L., Hawwari A. C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. J. Clin. Immunol. 2013, 33(4):871-875.
4. Asghar S.S., Venneker G.T., van M.M., Meinardi M.M., Hulsmans R.F., de Waal L.P. Hereditary deficiency of C5 in association with discoid lupus erythematosus. J. Am. Acad. Dermatol. 1991, 24:376-378.
5. Bauters T., Bordon V., Robays H., Benoit Y., Dhooge C. Successful use of eculizumab in a pediatric patient treated for paroxysmal nocturnal hemoglobinuria. J. Pediatr. Hematol. Oncol. 2012.
6. Blom A.M. Complement: Deficiency Diseases 2010, John Wiley & Sons Ltd., Chichester. http://www.els.net/, 10.1002/9780470015902a0002154pub2.
7. Bossi F., Fischetti F., Pellis V., Bulla R., Ferrero E., Mollnes T.E., Regoli D., Tedesco F. Platelet-activating factor and kinin-dependent vascular leakage as a novel functional activity of the soluble terminal complement complex. J. Immunol. 2004, 173:6921-6927.
8. Bouts A., Monnens L., Davin J.C., Struijk G., Spanjaard L. Insufficient protection by Neisseria meningitidis vaccination alone during eculizumab therapy. Pediatr. Nephrol. 2011, 26:1919-1920.
9. Cheng S.C., Sprong T., Joosten L.A., van der Meer J.W., Kullberg B.J., Hube B., Schejbel L., Garred P., van D.M., Netea M.G. Complement plays a central role in Candida albicans-induced cytokine production by human PBMCs. Eur. J. Immunol. 2012, 42:993-1004.
10. Daina E., Noris M., Remuzzi G. Eculizumab in a patient with dense-deposit disease. N. Engl. J. Med. 2012, 366:1161-1163.
11. Delgado-Cervino E., Fontan G., Lopez-Trascasa M. C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. Mol. Immunol. 2005, 42:105-111.
12. Figueroa J.E., Densen P. Infectious diseases associated with complement deficiencies. Clin. Microbiol. Rev. 1991, 4:359-395.
13. Fijen C.A., Kuijper E.J., te Bulte M.T., Daha M.R., Dankert J. Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. Clin. Infect. Dis. 1999, 28:98-105.
14. Gianella-Borradori A., Borradori L., Spath P. C5 deficiency and meningitis in a Swiss family. Arch. Intern. Med. 1988, 148:754.
15. Hellerud B.C., Aase A., Herstad T.K., Naess L.M., Kristiansen L.H., Troseid A.M., Harboe M., Lappegard K.T., Brandtzaeg P., Hoiby E.A., Mollnes T.E. Critical roles of complement and antibodies in host defense mechanisms against Neisseria meningitidis as revealed by human complement genetic deficiencies. Infect. Immun. 2010, 78:802-809.
16. Keating G.M., Lyseng-Williamson K.A., McKeage K. Eculizumab: a guide to its use in paroxysmal nocturnal hemoglobinuria. BioDrugs 2012, 26:125-130.
17. Lappegard K.T., Christiansen D., Pharo A., Thorgersen E.B., Hellerud B.C., Lindstad J., Nielsen E.W., Bergseth G., Fadnes D., Abrahamsen T.G., Hoiby E.A., Schejbel L., Garred P., Lambris J.D., Harboe M., Mollnes T.E. Human genetic deficiencies reveal the roles of complement in the inflammatory network: lessons from nature. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:15861-15866.
18. Li Q., Li Y.X., Stahl G.L., Thurman J.M., He Y., Tong H.H. Essential role of factor B of the alternative complement pathway in complement activation and opsonophagocytosis during acute pneumococcal otitis media in mice. Infect. Immun. 2011, 79:2578-2585.
19. Lopez-Lera A., Garrido S., de la Cruz R.M., Fontan G., Lopez-Trascasa M. Molecular characterization of three new mutations causing C5 deficiency in two non-related families. Mol. Immunol. 2009, 46:2340-2347.
20. Mollnes T.E., Song W.C., Lambris J.D. Complement in inflammatory tissue damage and disease. Trends Immunol. 2002, 23:61-64.
21. Nielsen H.E., Koch C. Meningococcal disease in congenital absence of the fifth component of complement. Scand. J Infect. Dis. 1987, 19:635-639.
22. Novoyatleva T., Tang Y., Rafalska I., Stamm S. Pre-mRNA missplicing as a cause of human disease. Prog. Mol. Subcell. Biol. 2006, 44:27-46.
23. Ohanian M., Cable C., Halka K. Eculizumab safely reverses neurologic impairment and eliminates need for dialysis in severe atypical hemolytic uremic syndrome. Clin. Pharmacol. 2011, 3:5-12.
24. Pfarr N., Prawitt D., Kirschfink M., Schroff C., Knuf M., Habermehl P., Mannhardt W., Zepp F., Fairbrother W.G., Loos M., Burge C.B., Pohlenz J. Linking C5 deficiency to an exonic splicing enhancer mutation. J. Immunol. 2005, 174:4172-4177.
25. Ricklin D., Hajishengallis G., Yang K., Lambris J.D. Complement: a key system for immune surveillance and homeostasis. Nat. Immunol. 2010, 11:785-797.
26. Rooryck C., az-Font A., Osborn D.P., Chabchoub E., Hernandez-Hernandez V., Shamseldin H., Kenny J., Waters A., Jenkins D., Kaissi A.A., Leal G.F., Dallapiccola B., Carnevale F., Bitner-Glindzicz M., Lees M., Hennekam R., Stanier P., Burns A.J., Peeters H., Alkuraya F.S., Beales P.L. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat. Genet. 2011, 43:197-203.
27. Rosenfeld S.I., Kelly M.E., Leddy J.P. Hereditary deficiency of the fifth component of complement in man. I. Clinical, immunochemical, and family studies. J. Clin. Invest. 1976, 57:1626-1634.
28. Sanal O., Loos M., Ersoy F., Kanra G., Secmeer G., Tezcan I. Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families. Eur. J. Pediatr. 1992, 151:676-679.
29. Schejbel L., Rosenfeldt V., Marquart H., Valerius N.H., Garred P. Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. Clin. Immunol. 2009, 131:456-462.
30. Seelen M.A., Roos A., Wieslander J., Mollnes T.E., Sjoholm A.G., Wurzner R., Loos M., Tedesco F., Sim R.B., Garred P., Alexopoulos E., Turner M.W., Daha M.R. Functional analysis of the classical, alternative, and MBL pathways of the complement system: standardization and validation of a simple ELISA. J. Immunol. Methods 2005, 296:187-198.
31. Skattum L., van D.M., van der P.T., Truedsson L. Complement deficiency states and associated infections. Mol. Immunol. 2011, 48:1643-1655.
32. Sprong T., Brandtzaeg P., Fung M., Pharo A.M., Hoiby E.A., Michaelsen T.E., Aase A., van der Meer J.W., van D.M., Mollnes T.E. Inhibition of C5a-induced inflammation with preserved C5b-9-mediated bactericidal activity in a human whole blood model of meningococcal sepsis. Blood 2003, 102:3702-3710.
33. Vivarelli M., Pasini A., Emma F. Eculizumab for the treatment of dense-deposit disease. N. Engl. J. Med. 2012, 366:1163-1165.
34. Walport M.J. Complement. First of two parts. N. Engl. J. Med. 2001, 344:1058-1066.
35. Wang X., Fleischer D.T., Whitehead W.T., Haviland D.L., Rosenfeld S.I., Leddy J.P., Snyderman R., Wetsel R.A. Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. J. Immunol. 1995, 154:5464-5471.