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Volumn 18, Issue 4, 2006, Pages 383-390

Mendelian traits that confer predisposition or resistance to specific infections in humans

Author keywords

[No Author keywords available]

Indexed keywords

BACTERIAL INFECTION; BACTERIAL VIRULENCE; BIOLOGICAL TRAIT; DISEASE PREDISPOSITION; EPSTEIN BARR VIRUS; GENE DISRUPTION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC TRAIT; HOST PATHOGEN INTERACTION; HOST RESISTANCE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS 1; IMMUNE DEFICIENCY; IMMUNE SYSTEM; IMMUNITY; IMMUNOGENETICS; INFECTION RESISTANCE; MENDELIAN TRAIT; MUTAGENESIS; MYCOBACTERIUM; NEISSERIA; NONHUMAN; NOROVIRUS; PARASITE VIRULENCE; PLASMODIUM VIVAX; REVIEW; STREPTOCOCCUS PNEUMONIAE; VIRUS INFECTION; VIRUS VIRULENCE; WART VIRUS;

EID: 33745665547     PISSN: 09527915     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.coi.2006.05.005     Document Type: Review
Times cited : (59)

References (73)
  • 1
    • 22944461763 scopus 로고    scopus 로고
    • Inborn errors of immunity to infection: the rule rather than the exception
    • Casanova J.L., and Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med 202 (2005) 197-201
    • (2005) J Exp Med , vol.202 , pp. 197-201
    • Casanova, J.L.1    Abel, L.2
  • 4
    • 0036774365 scopus 로고    scopus 로고
    • Forward genetics of infectious diseases: immunological impact
    • Casanova J.L., Schurr E., Abel L., and Skamene E. Forward genetics of infectious diseases: immunological impact. Trends Immunol 23 (2002) 469-472
    • (2002) Trends Immunol , vol.23 , pp. 469-472
    • Casanova, J.L.1    Schurr, E.2    Abel, L.3    Skamene, E.4
  • 5
    • 0347089095 scopus 로고    scopus 로고
    • The human model: a genetic dissection of immunity to infection in natural conditions
    • Casanova J.L., and Abel L. The human model: a genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol 4 (2004) 55-66
    • (2004) Nat Rev Immunol , vol.4 , pp. 55-66
    • Casanova, J.L.1    Abel, L.2
  • 6
    • 0002704755 scopus 로고    scopus 로고
    • Genetically determined deficiencies of the complement system
    • Ochs H., Edvard Smith C.I., and Puck J.M. (Eds), Oxford University Press
    • Sullivan K.E., and Winkelstein J.A. Genetically determined deficiencies of the complement system. In: Ochs H., Edvard Smith C.I., and Puck J.M. (Eds). Primary immunodefiency diseases: a molecular and genetic approach (1999), Oxford University Press
    • (1999) Primary immunodefiency diseases: a molecular and genetic approach
    • Sullivan, K.E.1    Winkelstein, J.A.2
  • 7
    • 0033056675 scopus 로고    scopus 로고
    • Assessment of complement deficiency in patients with meningococcal disease in The Netherlands
    • Fijen C.A., Kuijper E.J., te Bulte M.T., Daha M.R., and Dankert J. Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. Clin Infect Dis 28 (1999) 98-105
    • (1999) Clin Infect Dis , vol.28 , pp. 98-105
    • Fijen, C.A.1    Kuijper, E.J.2    te Bulte, M.T.3    Daha, M.R.4    Dankert, J.5
  • 8
    • 0042166122 scopus 로고    scopus 로고
    • Deficiencies of the complement MAC II gene cluster (C6, C7, C9): is subtotal C6 deficiency of particular evolutionary benefit?
    • Wurzner R. Deficiencies of the complement MAC II gene cluster (C6, C7, C9): is subtotal C6 deficiency of particular evolutionary benefit?. Clin Exp Immunol 133 (2003) 156-159
    • (2003) Clin Exp Immunol , vol.133 , pp. 156-159
    • Wurzner, R.1
  • 10
    • 28444439924 scopus 로고    scopus 로고
    • Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis
    • Bathum L., Hansen H., Teisner B., Koch C., Garred P., Rasmussen K., and Wang P. Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis. Mol Immunol 43 (2006) 473-479
    • (2006) Mol Immunol , vol.43 , pp. 473-479
    • Bathum, L.1    Hansen, H.2    Teisner, B.3    Koch, C.4    Garred, P.5    Rasmussen, K.6    Wang, P.7
  • 11
    • 2542497911 scopus 로고    scopus 로고
    • Human mannose-binding lectin in immunity: friend, foe, or both?
    • Casanova J.L., and Abel L. Human mannose-binding lectin in immunity: friend, foe, or both?. J Exp Med 199 (2004) 1295-1299
    • (2004) J Exp Med , vol.199 , pp. 1295-1299
    • Casanova, J.L.1    Abel, L.2
  • 12
    • 0036219062 scopus 로고    scopus 로고
    • Genetic dissection of immunity to mycobacteria: the human model
    • Casanova J.L., and Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 20 (2002) 581-620
    • (2002) Annu Rev Immunol , vol.20 , pp. 581-620
    • Casanova, J.L.1    Abel, L.2
  • 13
    • 0037450808 scopus 로고    scopus 로고
    • Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications
    • Fieschi C., Dupuis S., Catherinot E., Feinberg J., Bustamante J., Breiman A., Altare F., Baretto R., Le Deist F., Kayal S., et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 197 (2003) 527-535
    • (2003) J Exp Med , vol.197 , pp. 527-535
    • Fieschi, C.1    Dupuis, S.2    Catherinot, E.3    Feinberg, J.4    Bustamante, J.5    Breiman, A.6    Altare, F.7    Baretto, R.8    Le Deist, F.9    Kayal, S.10
  • 15
    • 22844449795 scopus 로고    scopus 로고
    • Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
    • This study in two kindreds that have complete IFN-γR2 deficiency provided the description of a gain-of-glycosylation pathogenic mutation. This led to the identification of an unexpectedly high proportion of missense mutations that might cause human genetic disease by creating new N-glycosylation sites.
    • Vogt G., Chapgier A., Yang K., Chuzhanova N., Feinberg J., Fieschi C., Boisson-Dupuis S., Alcais A., Filipe-Santos O., Bustamante J., et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 37 (2005) 692-700. This study in two kindreds that have complete IFN-γR2 deficiency provided the description of a gain-of-glycosylation pathogenic mutation. This led to the identification of an unexpectedly high proportion of missense mutations that might cause human genetic disease by creating new N-glycosylation sites.
    • (2005) Nat Genet , vol.37 , pp. 692-700
    • Vogt, G.1    Chapgier, A.2    Yang, K.3    Chuzhanova, N.4    Feinberg, J.5    Fieschi, C.6    Boisson-Dupuis, S.7    Alcais, A.8    Filipe-Santos, O.9    Bustamante, J.10
  • 17
    • 33745648987 scopus 로고    scopus 로고
    • Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E et al.: X-linked susceptibility to mycobacteria is caused by mutations in the NEMO leucine zipper domain that impair CD40-dependent IL-12 production. J Exp Med 2006. in press. This study provided the first genetic aetiology of X-linked recessive MSMD caused by NEMO mutations in three unrelated kindreds. The authors showed that mycobacterial susceptibility is caused by impaired IL-12 production via the CD40 pathway.
  • 18
    • 0029927301 scopus 로고    scopus 로고
    • Defective monocyte costimulation for IFN-γ production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation
    • Frucht D.M., and Holland S.M. Defective monocyte costimulation for IFN-γ production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation. J Immunol 157 (1996) 411-416
    • (1996) J Immunol , vol.157 , pp. 411-416
    • Frucht, D.M.1    Holland, S.M.2
  • 21
    • 0043281537 scopus 로고    scopus 로고
    • Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections
    • Medvedev A.E., Lentschat A., Kuhns D.B., Blanco J.C., Salkowski C., Zhang S., Arditi M., Gallin J.I., and Vogel S.N. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med 198 (2003) 521-531
    • (2003) J Exp Med , vol.198 , pp. 521-531
    • Medvedev, A.E.1    Lentschat, A.2    Kuhns, D.B.3    Blanco, J.C.4    Salkowski, C.5    Zhang, S.6    Arditi, M.7    Gallin, J.I.8    Vogel, S.N.9
  • 22
  • 23
    • 7444239116 scopus 로고    scopus 로고
    • Two siblings with lethal Pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4
    • Enders A., Pannicke U., Berner R., Henneke P., Radlinger K., Schwarz K., and Ehl S. Two siblings with lethal Pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4. J Pediatr 145 (2004) 698-700
    • (2004) J Pediatr , vol.145 , pp. 698-700
    • Enders, A.1    Pannicke, U.2    Berner, R.3    Henneke, P.4    Radlinger, K.5    Schwarz, K.6    Ehl, S.7
  • 24
    • 17644369000 scopus 로고    scopus 로고
    • Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency
    • Chapel H., Puel A., von Bernuth H., Picard C., and Casanova J.L. Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency. Clin Infect Dis 40 (2005) 1227-1231
    • (2005) Clin Infect Dis , vol.40 , pp. 1227-1231
    • Chapel, H.1    Puel, A.2    von Bernuth, H.3    Picard, C.4    Casanova, J.L.5
  • 25
    • 27744534928 scopus 로고    scopus 로고
    • Human TLR-7-, -8-, and -9-mediated induction of IFN-α/β and -λ Is IRAK-4 dependent and redundant for protective immunity to viruses
    • This study explored the type I and III IFN production pathway in IRAK-4-deficient cells and showed that the human TLR-7, -8 and -9 pathway that leads to type I and III IFN production is IRAK-4-dependent but is redundant for protective immunity to viruses.
    • Yang K., Puel A., Zhang S., Eidenschenk C., Ku C.L., Casrouge A., Picard C., von Bernuth H., Senechal B., Plancoulaine S., et al. Human TLR-7-, -8-, and -9-mediated induction of IFN-α/β and -λ Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity 23 (2005) 465-478. This study explored the type I and III IFN production pathway in IRAK-4-deficient cells and showed that the human TLR-7, -8 and -9 pathway that leads to type I and III IFN production is IRAK-4-dependent but is redundant for protective immunity to viruses.
    • (2005) Immunity , vol.23 , pp. 465-478
    • Yang, K.1    Puel, A.2    Zhang, S.3    Eidenschenk, C.4    Ku, C.L.5    Casrouge, A.6    Picard, C.7    von Bernuth, H.8    Senechal, B.9    Plancoulaine, S.10
  • 27
    • 33646500324 scopus 로고    scopus 로고
    • Delayed separation of umbilical cord in two sibbling with interleukin-1 receptor associated kinase 4 deficiency: rapid screening by flow cytometer
    • Takada H., Yoshikawa H., Imaizumi M., Kitamura T., Takeyama J., Kumaki S., Nomura A., and Hara T. Delayed separation of umbilical cord in two sibbling with interleukin-1 receptor associated kinase 4 deficiency: rapid screening by flow cytometer. J Pediatr 148 (2006) 546-548
    • (2006) J Pediatr , vol.148 , pp. 546-548
    • Takada, H.1    Yoshikawa, H.2    Imaizumi, M.3    Kitamura, T.4    Takeyama, J.5    Kumaki, S.6    Nomura, A.7    Hara, T.8
  • 28
    • 0016772968 scopus 로고
    • X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
    • Purtilo D.T., Cassel C.K., Yang J.P., and Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1 (1975) 935-940
    • (1975) Lancet , vol.1 , pp. 935-940
    • Purtilo, D.T.1    Cassel, C.K.2    Yang, J.P.3    Harper, R.4
  • 29
    • 13144302865 scopus 로고    scopus 로고
    • Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
    • This is an excellent and comprehensive review about X-linked lymphoproliferative disease. This review describes the clinical and immunological features of this disorder, as well as its genetic basis.
    • Nichols K.E., Ma C.S., Cannons J.L., Schwartzberg P.L., and Tangye S.G. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev 203 (2005) 180-199. This is an excellent and comprehensive review about X-linked lymphoproliferative disease. This review describes the clinical and immunological features of this disorder, as well as its genetic basis.
    • (2005) Immunol Rev , vol.203 , pp. 180-199
    • Nichols, K.E.1    Ma, C.S.2    Cannons, J.L.3    Schwartzberg, P.L.4    Tangye, S.G.5
  • 31
    • 8444234979 scopus 로고    scopus 로고
    • The SAP family of adaptors in immune regulation
    • Latour S., and Veillette A. The SAP family of adaptors in immune regulation. Semin Immunol 16 (2004) 409-419
    • (2004) Semin Immunol , vol.16 , pp. 409-419
    • Latour, S.1    Veillette, A.2
  • 32
    • 0034618065 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
    • Parolini S., Bottino C., Falco M., Augugliaro R., Giliani S., Franceschini R., Ochs H.D., Wolf H., Bonnefoy J.Y., Biassoni R., et al. X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med 192 (2000) 337-346
    • (2000) J Exp Med , vol.192 , pp. 337-346
    • Parolini, S.1    Bottino, C.2    Falco, M.3    Augugliaro, R.4    Giliani, S.5    Franceschini, R.6    Ochs, H.D.7    Wolf, H.8    Bonnefoy, J.Y.9    Biassoni, R.10
  • 34
    • 19344372415 scopus 로고    scopus 로고
    • + T cells against EBV-infected cells
    • Together with [33], this study demonstrates that lack of SAP affects specific signalling pathways, resulting in severe disruption of cytotoxic T lymphocyte function in cells from XLP patients. In addition, the authors demonstrate that the SAP/2B4 pathway plays a key role in cytotoxic T lymphocyte lytic activity against EBV-positive targets by promoting the polarization of the lytic machinery.
    • + T cells against EBV-infected cells. Blood 105 (2005) 4383-4389. Together with [33], this study demonstrates that lack of SAP affects specific signalling pathways, resulting in severe disruption of cytotoxic T lymphocyte function in cells from XLP patients. In addition, the authors demonstrate that the SAP/2B4 pathway plays a key role in cytotoxic T lymphocyte lytic activity against EBV-positive targets by promoting the polarization of the lytic machinery.
    • (2005) Blood , vol.105 , pp. 4383-4389
    • Dupre, L.1    Andolfi, G.2    Tangye, S.G.3    Clementi, R.4    Locatelli, F.5    Arico, M.6    Aiuti, A.7    Roncarolo, M.G.8
  • 36
    • 32444437410 scopus 로고    scopus 로고
    • Selective generation of functional somatically mutated IgMCD27, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease
    • This is an interesting study that describes the immunological B cell phenotype and histological organisation of the germinal centres of four XLP patients that have SAP mutations. Individuals that have XLP display defects in B cell differentiation in vivo and do not generate a normal number of isotype-switched CD27 memory B cells. These findings reveal a differential requirement for the generation of IgM and Ig isotype-switched memory B cells.
    • Ma C.S., Pittaluga S., Avery D.T., Hare N.J., Maric I., Klion A.D., Nichols K.E., and Tangye S.G. Selective generation of functional somatically mutated IgMCD27, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease. J Clin Invest 116 (2006) 322-333. This is an interesting study that describes the immunological B cell phenotype and histological organisation of the germinal centres of four XLP patients that have SAP mutations. Individuals that have XLP display defects in B cell differentiation in vivo and do not generate a normal number of isotype-switched CD27 memory B cells. These findings reveal a differential requirement for the generation of IgM and Ig isotype-switched memory B cells.
    • (2006) J Clin Invest , vol.116 , pp. 322-333
    • Ma, C.S.1    Pittaluga, S.2    Avery, D.T.3    Hare, N.J.4    Maric, I.5    Klion, A.D.6    Nichols, K.E.7    Tangye, S.G.8
  • 37
    • 20144387328 scopus 로고    scopus 로고
    • Regulation of NKT cell development by SAP, the protein defective in XLP
    • •], this study demonstrates that the lack of SAP affects the NKT cell development in both XLP patients and mice. This reveals a potential role of NKT cells in the immune response to EBV.
    • •], this study demonstrates that the lack of SAP affects the NKT cell development in both XLP patients and mice. This reveals a potential role of NKT cells in the immune response to EBV.
    • (2005) Nat Med , vol.11 , pp. 340-345
    • Nichols, K.E.1    Hom, J.2    Gong, S.Y.3    Ganguly, A.4    Ma, C.S.5    Cannons, J.L.6    Tangye, S.G.7    Schwartzberg, P.L.8    Koretzky, G.A.9    Stein, P.L.10
  • 39
    • 33645467271 scopus 로고    scopus 로고
    • A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8
    • The authors report a novel primary immunodeficiency in which patients have specific NK cell deficiency and are susceptible to viral diseases (e.g. one patient developed an Epstein-Barr virus-driven lymphoproliferative disorder). This was discovered in a large inbred pedigree.
    • Eidenschenk C., Dunne J., Jouanguy E., Fourlinnie C., Gineau L., Bacq D., McMahon C., Smith O., Casanova J.L., Abel L., et al. A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. Am J Hum Genet 78 (2006) 721-727. The authors report a novel primary immunodeficiency in which patients have specific NK cell deficiency and are susceptible to viral diseases (e.g. one patient developed an Epstein-Barr virus-driven lymphoproliferative disorder). This was discovered in a large inbred pedigree.
    • (2006) Am J Hum Genet , vol.78 , pp. 721-727
    • Eidenschenk, C.1    Dunne, J.2    Jouanguy, E.3    Fourlinnie, C.4    Gineau, L.5    Bacq, D.6    McMahon, C.7    Smith, O.8    Casanova, J.L.9    Abel, L.10
  • 40
    • 0028230637 scopus 로고
    • Epidermodysplasia verruciformis: immunological and clinical aspects
    • Jablonska S., and Majewski S. Epidermodysplasia verruciformis: immunological and clinical aspects. Curr Top Microbiol Immunol 186 (1994) 157-175
    • (1994) Curr Top Microbiol Immunol , vol.186 , pp. 157-175
    • Jablonska, S.1    Majewski, S.2
  • 41
    • 18744369886 scopus 로고    scopus 로고
    • Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
    • Ramoz N., Rueda L.A., Bouadjar B., Montoya L.S., Orth G., and Favre M. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 32 (2002) 579-581
    • (2002) Nat Genet , vol.32 , pp. 579-581
    • Ramoz, N.1    Rueda, L.A.2    Bouadjar, B.3    Montoya, L.S.4    Orth, G.5    Favre, M.6
  • 42
    • 2442694458 scopus 로고    scopus 로고
    • Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis
    • Tate G., Suzuki T., Kishimoto K., and Mitsuya T. Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. J Hum Genet 49 (2004) 223-225
    • (2004) J Hum Genet , vol.49 , pp. 223-225
    • Tate, G.1    Suzuki, T.2    Kishimoto, K.3    Mitsuya, T.4
  • 43
    • 23044509522 scopus 로고    scopus 로고
    • A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis
    • Sun X.K., Chen J.F., and Xu A.E. A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis. Clin Exp Dermatol 30 (2005) 573-574
    • (2005) Clin Exp Dermatol , vol.30 , pp. 573-574
    • Sun, X.K.1    Chen, J.F.2    Xu, A.E.3
  • 44
    • 0041620500 scopus 로고    scopus 로고
    • Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis
    • Kurima K., Yang Y., Sorber K., and Griffith A.J. Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. Genomics 82 (2003) 300-308
    • (2003) Genomics , vol.82 , pp. 300-308
    • Kurima, K.1    Yang, Y.2    Sorber, K.3    Griffith, A.J.4
  • 45
    • 9444261862 scopus 로고    scopus 로고
    • TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins
    • Keresztes G., Mutai H., and Heller S. TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. BMC Genomics 4 (2003) 24
    • (2003) BMC Genomics , vol.4 , pp. 24
    • Keresztes, G.1    Mutai, H.2    Heller, S.3
  • 47
    • 2942648153 scopus 로고    scopus 로고
    • Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency
    • Laffort C., Le Deist F., Favre M., Caillat-Zucman S., Radford-Weiss I., Debre M., Fraitag S., Blanche S., Cavazzana-Calvo M., de Saint Basile G., et al. Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency. Lancet 363 (2004) 2051-2054
    • (2004) Lancet , vol.363 , pp. 2051-2054
    • Laffort, C.1    Le Deist, F.2    Favre, M.3    Caillat-Zucman, S.4    Radford-Weiss, I.5    Debre, M.6    Fraitag, S.7    Blanche, S.8    Cavazzana-Calvo, M.9    de Saint Basile, G.10
  • 48
    • 0017077503 scopus 로고
    • The resistance factor to Plasmodium vivax in blacks. The duffy-blood-group genotype, FyFy
    • Miller L.H., Mason S.J., Clyde D.F., and McGinniss M.H. The resistance factor to Plasmodium vivax in blacks. The duffy-blood-group genotype, FyFy. N Engl J Med 295 (1976) 302-304
    • (1976) N Engl J Med , vol.295 , pp. 302-304
    • Miller, L.H.1    Mason, S.J.2    Clyde, D.F.3    McGinniss, M.H.4
  • 49
    • 0029001881 scopus 로고
    • Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in duffy-negative individuals
    • Tournamille C., Colin Y., Cartron J.P., and Le Van Kim C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in duffy-negative individuals. Nat Genet 10 (1995) 224-228
    • (1995) Nat Genet , vol.10 , pp. 224-228
    • Tournamille, C.1    Colin, Y.2    Cartron, J.P.3    Le Van Kim, C.4
  • 51
    • 23144464778 scopus 로고    scopus 로고
    • A structural model of a seven-transmembrane helix receptor: the duffy antigen/receptor for chemokine (DARC)
    • de Brevern A.G., Wong H., Tournamille C., Colin Y., Le Van Kim C., and Etchebest C. A structural model of a seven-transmembrane helix receptor: the duffy antigen/receptor for chemokine (DARC). Biochim Biophys Acta 1724 (2005) 288-306
    • (2005) Biochim Biophys Acta , vol.1724 , pp. 288-306
    • de Brevern, A.G.1    Wong, H.2    Tournamille, C.3    Colin, Y.4    Le Van Kim, C.5    Etchebest, C.6
  • 53
    • 20044390745 scopus 로고    scopus 로고
    • Sulphated tyrosines mediate association of chemokines and Plasmodium vivax duffy binding protein with the duffy antigen/receptor for chemokines (DARC)
    • This study showed that a sulphated tyrosine residue on DARC is a key component of the interaction with P. vivax-DBL or P. knowlesi-DBL. These data are consistent with a role for tyrosine sulphation in the association of many or most chemokines with their receptors, and identify a key molecular determinant of erythrocyte invasion by P. vivax.
    • Choe H., Moore M.J., Owens C.M., Wright P.L., Vasilieva N., Li W., Singh A.P., Shakri R., Chitnis C.E., and Farzan M. Sulphated tyrosines mediate association of chemokines and Plasmodium vivax duffy binding protein with the duffy antigen/receptor for chemokines (DARC). Mol Microbiol 55 (2005) 1413-1422. This study showed that a sulphated tyrosine residue on DARC is a key component of the interaction with P. vivax-DBL or P. knowlesi-DBL. These data are consistent with a role for tyrosine sulphation in the association of many or most chemokines with their receptors, and identify a key molecular determinant of erythrocyte invasion by P. vivax.
    • (2005) Mol Microbiol , vol.55 , pp. 1413-1422
    • Choe, H.1    Moore, M.J.2    Owens, C.M.3    Wright, P.L.4    Vasilieva, N.5    Li, W.6    Singh, A.P.7    Shakri, R.8    Chitnis, C.E.9    Farzan, M.10
  • 54
    • 8144222982 scopus 로고    scopus 로고
    • Conserved residues in the Plasmodium vivax duffy-binding protein ligand domain are critical for erythrocyte receptor recognition
    • VanBuskirk K.M., Sevova E., and Adams J.H. Conserved residues in the Plasmodium vivax duffy-binding protein ligand domain are critical for erythrocyte receptor recognition. Proc Natl Acad Sci USA 101 (2004) 15754-15759
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 15754-15759
    • VanBuskirk, K.M.1    Sevova, E.2    Adams, J.H.3
  • 55
    • 14844282817 scopus 로고    scopus 로고
    • Mapping binding residues in the Plasmodium vivax domain that binds duffy antigen during red cell invasion
    • Together with [54], this study identifies the residues in P. vivax-DBP that bind to DARC during red blood cell invasion. In particular, hydrophobic interactions were found to play a major role in the interaction of P. vivax-DBP with DARC.
    • Hans D., Pattnaik P., Bhattacharyya A., Shakri A.R., Yazdani S.S., Sharma M., Choe H., Farzan M., and Chitnis C.E. Mapping binding residues in the Plasmodium vivax domain that binds duffy antigen during red cell invasion. Mol Microbiol 55 (2005) 1423-1434. Together with [54], this study identifies the residues in P. vivax-DBP that bind to DARC during red blood cell invasion. In particular, hydrophobic interactions were found to play a major role in the interaction of P. vivax-DBP with DARC.
    • (2005) Mol Microbiol , vol.55 , pp. 1423-1434
    • Hans, D.1    Pattnaik, P.2    Bhattacharyya, A.3    Shakri, A.R.4    Yazdani, S.S.5    Sharma, M.6    Choe, H.7    Farzan, M.8    Chitnis, C.E.9
  • 56
    • 32544440337 scopus 로고    scopus 로고
    • Structural basis for duffy recognition by the malaria parasite duffy-binding-like domain
    • The authors present the crystal structure of the P. knowlesi DBL domain, which binds to DARC during invasion of human erythrocytes. They found that the residues that contact DARC and the clusters of residues under immune pressure map to opposite surfaces of the DBL, which suggests a possible mechanism of immune invasion by P. vivax.
    • Singh S.K., Hora R., Belrhali H., Chitnis C.E., and Sharma A. Structural basis for duffy recognition by the malaria parasite duffy-binding-like domain. Nature 439 (2006) 741-744. The authors present the crystal structure of the P. knowlesi DBL domain, which binds to DARC during invasion of human erythrocytes. They found that the residues that contact DARC and the clusters of residues under immune pressure map to opposite surfaces of the DBL, which suggests a possible mechanism of immune invasion by P. vivax.
    • (2006) Nature , vol.439 , pp. 741-744
    • Singh, S.K.1    Hora, R.2    Belrhali, H.3    Chitnis, C.E.4    Sharma, A.5
  • 57
    • 0034691137 scopus 로고    scopus 로고
    • Targeted disruption of an erythrocyte binding antigen in Plasmodium falciparum is associated with a switch toward a sialic acid-independent pathway of invasion
    • Reed M.B., Caruana S.R., Batchelor A.H., Thompson J.K., Crabb B.S., and Cowman A.F. Targeted disruption of an erythrocyte binding antigen in Plasmodium falciparum is associated with a switch toward a sialic acid-independent pathway of invasion. Proc Natl Acad Sci USA 97 (2000) 7509-7514
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 7509-7514
    • Reed, M.B.1    Caruana, S.R.2    Batchelor, A.H.3    Thompson, J.K.4    Crabb, B.S.5    Cowman, A.F.6
  • 58
    • 32544446940 scopus 로고    scopus 로고
    • HIV and the chemokine system: 10 years later
    • This is a comprehensive review of HIV infection. It provides an update on the latest advances in our understanding of the pathogenesis of AIDS and the chemokine system, and opens up new perspectives for the development of novel treatments.
    • Lusso P. HIV and the chemokine system: 10 years later. EMBO J 25 (2006) 447-456. This is a comprehensive review of HIV infection. It provides an update on the latest advances in our understanding of the pathogenesis of AIDS and the chemokine system, and opens up new perspectives for the development of novel treatments.
    • (2006) EMBO J , vol.25 , pp. 447-456
    • Lusso, P.1
  • 60
    • 27844602105 scopus 로고    scopus 로고
    • The geographic spread of the CCR5 Δ32 HIV-resistance allele
    • Novembre J., Galvani A.P., and Slatkin M. The geographic spread of the CCR5 Δ32 HIV-resistance allele. PLoS Biol 3 (2005) e339
    • (2005) PLoS Biol , vol.3
    • Novembre, J.1    Galvani, A.P.2    Slatkin, M.3
  • 61
    • 21344467949 scopus 로고    scopus 로고
    • Detection of the CCR5-Δ32 HIV resistance gene in bronze age skeletons
    • Hummel S., Schmidt D., Kremeyer B., Herrmann B., and Oppermann M. Detection of the CCR5-Δ32 HIV resistance gene in bronze age skeletons. Genes Immun 6 (2005) 371-374
    • (2005) Genes Immun , vol.6 , pp. 371-374
    • Hummel, S.1    Schmidt, D.2    Kremeyer, B.3    Herrmann, B.4    Oppermann, M.5
  • 63
    • 20044377204 scopus 로고    scopus 로고
    • The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
    • This study shows that possession of a number of copies of CCL3L1 (a ligand for the HIV coreceptor CCR5) higher than the population average is associated with protection against HIV infection and AIDS.
    • Gonzalez E., Kulkarni H., Bolivar H., Mangano A., Sanchez R., Catano G., Nibbs R.J., Freedman B.I., Quinones M.P., Bamshad M.J., et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307 (2005) 1434-1440. This study shows that possession of a number of copies of CCL3L1 (a ligand for the HIV coreceptor CCR5) higher than the population average is associated with protection against HIV infection and AIDS.
    • (2005) Science , vol.307 , pp. 1434-1440
    • Gonzalez, E.1    Kulkarni, H.2    Bolivar, H.3    Mangano, A.4    Sanchez, R.5    Catano, G.6    Nibbs, R.J.7    Freedman, B.I.8    Quinones, M.P.9    Bamshad, M.J.10
  • 64
    • 31344465937 scopus 로고    scopus 로고
    • CCR5 deficiency increases risk of symptomatic West Nile virus infection
    • The authors reported an epidemiologic study in two independent cohorts of patients, and showed that CCR5-Δ32 homozygosity is strongly associated with symptomatic WNV infection.
    • Glass W.G., McDermott D.H., Lim J.K., Lekhong S., Yu S.F., Frank W.A., Pape J., Cheshier R.C., and Murphy P.M. CCR5 deficiency increases risk of symptomatic West Nile virus infection. J Exp Med 203 (2006) 35-40. The authors reported an epidemiologic study in two independent cohorts of patients, and showed that CCR5-Δ32 homozygosity is strongly associated with symptomatic WNV infection.
    • (2006) J Exp Med , vol.203 , pp. 35-40
    • Glass, W.G.1    McDermott, D.H.2    Lim, J.K.3    Lekhong, S.4    Yu, S.F.5    Frank, W.A.6    Pape, J.7    Cheshier, R.C.8    Murphy, P.M.9
  • 65
    • 26844529383 scopus 로고    scopus 로고
    • Chemokine receptor CCR5 promotes leukocyte trafficking to the brain and survival in west Nile virus infection
    • -/- mice that showed that CCR5 is a crucial antiviral and survival determinant of WNV infection in mice that acts by regulating trafficking of leukocytes to the infected brain.
    • -/- mice that showed that CCR5 is a crucial antiviral and survival determinant of WNV infection in mice that acts by regulating trafficking of leukocytes to the infected brain.
    • (2005) J Exp Med , vol.202 , pp. 1087-1098
    • Glass, W.G.1    Lim, J.K.2    Cholera, R.3    Pletnev, A.G.4    Gao, J.L.5    Murphy, P.M.6
  • 66
    • 2542472337 scopus 로고    scopus 로고
    • Norovirus disease: changing epidemiology and host susceptibility factors
    • Hutson A.M., Atmar R.L., and Estes M.K. Norovirus disease: changing epidemiology and host susceptibility factors. Trends Microbiol 12 (2004) 279-287
    • (2004) Trends Microbiol , vol.12 , pp. 279-287
    • Hutson, A.M.1    Atmar, R.L.2    Estes, M.K.3
  • 69
    • 29744442306 scopus 로고    scopus 로고
    • A homozygous nonsense mutation (428G→A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections
    • This is an epidemiologic study that shows that the FUT2 non-secretor genotype is fully associated with resistance to symptomatic norovirus infection during nosocomial and sporadic outbreaks.
    • Thorven M., Grahn A., Hedlund K.O., Johansson H., Wahlfrid C., Larson G., and Svensson L. A homozygous nonsense mutation (428G→A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections. J Virol 79 (2005) 15351-15355. This is an epidemiologic study that shows that the FUT2 non-secretor genotype is fully associated with resistance to symptomatic norovirus infection during nosocomial and sporadic outbreaks.
    • (2005) J Virol , vol.79 , pp. 15351-15355
    • Thorven, M.1    Grahn, A.2    Hedlund, K.O.3    Johansson, H.4    Wahlfrid, C.5    Larson, G.6    Svensson, L.7
  • 70
    • 0036221260 scopus 로고    scopus 로고
    • New perspectives on the immunology of chronic Mucocutaneous candidiasis
    • Lilic D. New perspectives on the immunology of chronic Mucocutaneous candidiasis. Curr Opin Infect Dis 15 (2002) 143-147
    • (2002) Curr Opin Infect Dis , vol.15 , pp. 143-147
    • Lilic, D.1
  • 73
    • 29144484290 scopus 로고    scopus 로고
    • Tuberculosis in children and adults: two distinct genetic diseases
    • This is a review about Mendelian and complex genetic predispositions to tuberculosis reported in children and adults, respectively. It supports the hypothesis that a substantial proportion of children world-wide who have disseminated tuberculosis have a Mendelian predisposition to disease.
    • Alcais A., Fieschi C., Abel L., and Casanova J.L. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 202 (2005) 1617-1621. This is a review about Mendelian and complex genetic predispositions to tuberculosis reported in children and adults, respectively. It supports the hypothesis that a substantial proportion of children world-wide who have disseminated tuberculosis have a Mendelian predisposition to disease.
    • (2005) J Exp Med , vol.202 , pp. 1617-1621
    • Alcais, A.1    Fieschi, C.2    Abel, L.3    Casanova, J.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.