A novel mutation in the C3 gene and recurrent invasive pneumococcal infection: A clue for vaccine development

Molecular Immunology

Volumn 48, Issue 15-16, 2011, Pages 1926-1931

  Goldberg, Michael ^a   Fremeaux Bacchi, Véronique ^c   Koch, Penina ^a   Fishelson, Zvi ^b   Katz, Yitzhak ^a,b  

^a ASSAF HAROFEH MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Antibody response; Complement C3; Pneumococcal; Vaccination

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENTARY DNA; DNA; GAMMA INTERFERON; GENOMIC DNA; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; PNEUMOCOCCUS VACCINE; POLYSACCHARIDE; PREVNAR 7; TETANUS TOXOID; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ADAPTIVE IMMUNITY; ANTIBODY LABELING; ANTIBODY RESPONSE; ANTIBODY TITER; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHILD; CODON; COMPLEMENT C3 DEFICIENCY; COMPLEMENT DEFICIENCY; CONJUGATION; DNA ISOLATION; DRUG EFFICACY; EXON; FATHER; FIBROBLAST; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC TRANSCRIPTION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNE RESPONSE; IMMUNOPRECIPITATION; MALE; MOTHER; MUTATIONAL ANALYSIS; PNEUMOCOCCAL INFECTION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT INFECTION; SIGNAL TRANSDUCTION; VACCINATION;

BASE SEQUENCE; CHILD, PRESCHOOL; COMPLEMENT C3; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; HUMANS; IMMUNOPRECIPITATION; MALE; MOLECULAR SEQUENCE DATA; PNEUMOCOCCAL VACCINES; PNEUMONIA, PNEUMOCOCCAL; POINT MUTATION;

EID: 80051921079     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2011.05.020     Document Type: Article

References (30)

1. Balloch A., Licciardi P.V., Russell F.M., Mulholland E.K., Tang M.L. Infants aged 12 months can mount adequate serotype-specific IgG responses to pneumococcal polysaccharide vaccine. J. Allergy Clin. Immunol. 2010, 126(August (2)):395-397. (Epub June 26, 2010).
2. Baxendale H.E., Johnson M., Keating S.M., Ashton L., Burbidge P., Woodgate S., Southern J., Miller E., Goldblatt D. Circulating pneumococcal specific plasma and memory B cells in the elderly two years after pneumococcal conjugate versus polysaccharide vaccination. Vaccine 2010, 28(October (42)):6915-6922. (Epub August 12, 2010).
3. Bogaert D., Thompson C.M., Trzcinski K., Malley R., Lipsitch M. The role of complement in innate and adaptive immunity to pneumococcal colonization and sepsis in a murine model. Vaccine 2010, 28(January (3)):681-685. (Epub November 3, 2009).
4. Borzy M.S., Gewurz A., Wolff L., Houghton D., Lovrien E. Inherited C3 deficiency with recurrent infections and glomerulonephritis. Am. J. Dis. Child. 1988, 142(January (1)):79-83.
5. Botto M., Fong K.Y., So A.K., Rudge A., Walport M.J. Molecular basis of hereditary C3 deficiency. J. Clin. Invest. 1990, 86(October (4)):1158-1163.
6. Botto M., Fong K.Y., So A.K., Barlow R., Routier R., Morley B.J., Walport M.J. Homozygous hereditary C3 deficiency due to a partial gene deletion. Proc. Natl. Acad. Sci. U.S.A. 1992, 89(June (11)):4957-4961.
7. Brown K.M., Kondeatis E., Vaughan R.W., Kon S.P., Farmer C.K., Taylor J.D., He X., Johnston A., Horsfield C., Janssen B.J., Gros P., Zhou W., Sacks S.H., Sheerin N.S. Influence of donor C3 allotype on late renal-transplantation outcome. N. Engl. J. Med. 2006, 354(May (19)):2014-2023.
8. Cordonnier C., Labopin M., Chesnel V., Ribaud P., Camara Rde L., Martino R., Ullmann A.J., Parkkali T., Locasciulli A., Yakouben K., Pauksens K., Bonnet E., Einsele H., Niederwieser D., Apperley J., Ljungman P. Immune response to the 23-valent polysaccharide pneumococcal vaccine after the 7-valent conjugate vaccine in allogeneic stem cell transplant recipients: results from the EBMT IDWP01 trial. Vaccine 2010, 28(March (15)):2730-2734. (Epub January 29, 2010).
9. Crum-Cianflone N.F., Huppler Hullsiek K., Roediger M., Ganesan A., Patel S., Landrum M.L., Weintrob A., Agan B.K., Medina S., Rahkola J., Hale B.R., Janoff E.N. A randomized clinical trial comparing revaccination with pneumococcal conjugate vaccine to polysaccharide vaccine among HIV-infected adults. J. Infect. Dis. 2010, 202(October (7)):1114-1125. Infectious Disease Clinical Research Program HIV Working Group.
10. Dragon-Durey M.A., Frémeaux-Bacchi V., Loirat C., Blouin J., Niaudet P., Deschenes G., Coppo P., Herman Fridman W., Weiss L. Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J. Am. Soc. Nephrol. 2004, 15(March (3)):787-795.
11. Fremeaux-Bacchi V., Dragon-Durey M.A., Blouin J., Vigneau C., Kuypers D., Boudailliez B., Loirat C., Rondeau E., Fridman W.H. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J. Med. Genet. 2004, 41(June (6)):e84.
12. Fremeaux-Bacchi V., Moulton E.A., Kavanagh D., Dragon-Durey M.A., Blouin J., Caudy A., Arzouk N., Cleper R., Francois M., Guest G., Pourrat J., Seligman R., Fridman W.H., Loirat C., Atkinson J.P. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 2006, 17(July (7)):2017-2025. (Epub June 8, 2006).
13. Frémeaux-Bacchi V., Miller E.C., Liszewski M.K., Strain L., Blouin J., Brown A.L., Moghal N., Kaplan B.S., Weiss R.A., Lhotta K., Kapur G., Mattoo T., Nivet H., Wong W., Gie S., Hurault de Ligny B., Fischbach M., Gupta R., Hauhart R., Meunier V., Loirat C., Dragon-Durey M.A., Fridman W.H., Janssen B.J., Goodship T.H., Atkinson J.P. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 2008, 112(December (13)):4948-4952. (Epub September 16, 2008).
14. Ghannam A., Pernollet M., Fauquert J.L., Monnier N., Ponard D., Villiers M.B., Péguet-Navarro J., Tridon A., Lunardi J., Gerlier D., Drouet C. Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. J. Immunol. 2008, 181(October (7)):5158-5166.
15. Hazlewood M.A., Kumararatne D.S., Webster A.D., Goodall M., Bird P., Daha M. An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. Clin. Exp. Immunol. 1992, 87(March (3)):404-409.
16. Katz Y., Stav D., Barr J., Passwell J.H. IL-13 results in differential regulation of the complement proteins C3 and factor B in tumour necrosis factor (TNF)-stimulated fibroblasts. Clin. Exp. Immunol. 1995, 101(July (1)):150-156.
17. Katz Y., Strunk R.C. Synovial fibroblast-like cells synthesize seven proteins of the complement system. Arthritis Rheum. 1988, 31(November (11)):1365-1370.
18. Katz Y., Wetsel R.A., Schlesinger M., Fishelson Z. Compound heterozygous complement C3 deficiency. Immunology 1995, 84(January (1)):5-7.
19. Lesprit P., Pédrono G., Molina J.M., Goujard C., Girard P.M., Sarrazin N., Katlama C., Yéni P., Morineau P., Delfraissy J.F., Chêne G., Lévy Y Immunological efficacy of a prime-boost pneumococcal vaccination in HIV-infected adults. AIDS 2007, 21:2425-2434. ANRS 114-Pneumovac Study Group.
20. Malley R. Antibody and cell-mediated immunity to Streptococcus pneumoniae: implications for vaccine development. J. Mol. Med. 2010, 88(January (2)):135-142. (Review; Epub February).
21. Malley R., Trzcinski K., Srivastava A., Thompson C.M., Anderson P.W., Lipsitch M. CD4+ T cells mediate antibody-independent acquired immunity to pneumococcal colonization. Proc. Natl. Acad. Sci. U.S.A. 2005, 102(March (13)):4848-4853. (Epub March 21, 2005).
22. Manoff S.B., Liss C., Caulfield M.J., Marchese R.D., Silber J., Boslego J., Romero-Steiner S., Rajam G., Glass N.E., Whitney C.G., Carlone G.M. Revaccination with a 23-valent pneumococcal polysaccharide vaccine induces elevated and persistent functional antibody responses in adults aged 65 > or = years. J. Infect. Dis. 2010, 201(February (4)):525-533.
23. Matsuyama W., Nakagawa M., Takashima H., Muranaga F., Sano Y., Osame M. Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters. Intern. Med. 2001, 40(December (12)):1254-1258. (Review).
24. Nadiv O., Beer Y., Goldberg M., Agar G., Loos M., Katz Y. Decreased induction of IL-1beta in fibroblast-like synoviocytes: a possible regulatory mechanism maintaining joint homeostasis. Mol. Immunol. 2007, 44(May (12)):3147-3154. (Epub March 13, 2007).
25. Rabian C., Tschöpe I., Lesprit P., Katlama C., Molina J.M., Meynard J.L., Delfraissy J.F., Chêne G., Lévy Y Cellular CD4 T cell responses to the diphtheria-derived carrier protein of conjugated pneumococcal vaccine and antibody response to pneumococcal vaccination in HIV-infected adults. Clin. Infect. Dis. 2010, 50(April (8)):1174-1183. ANRS 114 Pneumovac Study Group.
26. Reis E.S., Nudelman V., Isaac L. Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. Immunogenetics 2004, 55(January (10)):667-673. (Epub November 25, 2003).
27. Shinefield H.R., Black S., Ray P., Chang I., Lewis N., Fireman B., Hackell J., Paradiso P.R., Siber G., Kohberger R., Madore D.V., Malinowski F.J., Kimura A., Le C., Landaw I., Aguilar J., Hansen J. Safety and immunogenicity of heptavalent pneumococcal CRM197 conjugate vaccine in infants and toddlers. Pediatr. Infect. Dis. J. 1999, 18(September (9)):757-763.
28. Singer L., Whitehead W.T., Akama H., Katz Y., Fishelson Z., Wetsel R.A. Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. J. Biol. Chem. 1994, 269(November (45)):28494-28499.
29. Singer L., Van Hee M.L., Lokki M.L., Kramer J., Borzy M.S., Wetsel R.A. Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. Clin. Immunol. Immunopathol. 1996, 81(December (3)):244-252.
30. Yates J.R., Sepp T., Matharu B.K., Khan J.C., Thurlby D.A., Shahid H., Clayton D.G., Hayward C., Morgan J., Wright A.F., Armbrecht A.M., Dhillon B., Deary I.J., Redmond E., Bird A.C., Moore A.T. Complement C3 variant and the risk of age-related macular degeneration. N. Engl. J. Med. 2007, 357(August (6)):553-561. Genetic Factors in AMD Study Group, (Epub July 18, 2007).