Acknowledgements

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We would like to thank all the members of our laboratory for helpful discussions and critical reading of this manuscript, and our collaborators worldwide for their trust and patience.

Needless to say, we are much indebted to the patients and their families. This work was supported by the Fondation BNP-Paribas, the Fondation Schlumberger, and EU grant number QLK2-CT-2002-00846. JLC is an International Scholar of the Howard Hughes Medical Institute.

References

Alcais A, Fieschi C, Abel L, Casanova JL 2005 Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 202:1617-1621 Bathum L, Hansen H, Teisner B et al 2006 Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis. Mol Immunol 43:473-479

Cardenes M, von Bernuth H, Garcia-Saavedra A et al 2006 Clinical and laboratory observations autosomal recessive interkeukin receptor associated kinase 4 deficiency in fourth-degree relatives. J Pediatr 148:549-551 Casanova JL, Abel L 2002 Genetic dissection of immunity to mycobacteria: the human model.

Annu Rev Immunol 20:581-620 Casanova JL, Abel L 2004a Human mannose-binding lectin in immunity: friend, foe, or both?

J Exp Med 199:1295-1299 Casanova JL, Abel L 2004b The human model: a genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol 4:55-66 Casanova JL, Abel L 2005 Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med 202:197-201 Casanova JL, Schurr E, Abel L, Skamene E 2002 Forward genetics of infectious diseases:

immunological impact. Trends Immunol 23:469-472 Casanova JL, Fieschi C, Bustamante J et al 2005 From idiopathic infectious diseases to novel primary immunodeficiencies. J Allergy Clin Immunol 116:426-430 Chapel H, Puel A, von Bernuth H, Picard C, Casanova JL 2005 Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency. Clin Infect Dis 40:1227-1231 Chapgier A, Boisson-Dupuis S, Jouanguy E et al 2006 Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet 2:e131 Currie AJ, Davidson DJ, Reid GS et al 2004 Primary immunodeficiency to pneumococcal infection due to a defect in Toll-like receptor signaling. J Pediatr 144:512-518 Dorman SE, Picard C, Lammas D et al 2004 Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 364:2113-2121 Dupre L, Andolfi G, Tangye SG et al 2005 SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells. Blood 105:4383-4389 Dupuis S, Dargemont C, Fieschi C et al 2001 Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 293:300-303 Dupuis S, Jouanguy E, Al-Hajjar S et al 2003 Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33:388-391 Eidenschenk C, Dunne J, Jouanguy E et al 2006 A Novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. Am J Hum Genet 78:721-727 Emonts M, Hazelzet JA, de Groot R, Hermans PW 2003 Host genetic determinants of Neisseria meningitidis infections. Lancet Infect Dis 3:565-577 Enders A, Pannicke U, Berner R et al 2004 Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4. J Pediatr 145: 698-700

Fieschi C, Dupuis S, Catherinot E et al 2003 Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor betal deficiency: medical and immunological implications. J Exp Med 197:527-535 Fijen CA, Kuijper EJ, te Bulte MT, Daha MR, Dankert J 1999 Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. Clin Infect Dis 28:98-105

Filipe-Santos O, Bustamante J, Haverkamp MH et al 2006 X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 203:1745-1759

Frucht DM, Holland SM 1996 Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation. J Immunol 157:411-416 Guttman-Yassky E, Cohen A, Kra-Oz Z et al 2004 Familial clustering of classic Kaposi sarcoma. J Infect Dis 189:2023-2026 Jablonska S, Majewski S 1994 Epidermodysplasia verruciformis: immunological and clinical aspects. Curr Top Microbiol Immunol 186:157-175 Keresztes G, Mutai H, Heller S 2003 TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. BMC Genomics 4:24 Kurima K, Peters LM, Yang Y et al 2002 Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 30:277-284 Kurima K, Yang Y, Sorber K, Griffith AJ 2003 Characterization of the transmembrane channellike (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. Genomics 82:300-308 Laffort C, Le Deist F, Favre M et al 2004 Severe cutaneous papillomavirus disease after haemo-poietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gamma cytokine receptor subunit or JAK-3 deficiency. Lancet 363:2051-2054 Latour S, Veillette A 2004 The SAP family of adaptors in immune regulation. Semin Immunol 16:409-419

Lilic D 2002 New perspectives on the immunology of chronic mucocutaneous candidiasis.

Curr Opin Infect Dis 15:143-147 Ma CS, Hare NJ, Nichols KE et al 2005 Impaired humoral immunity in X-linked lymphopro-liferative disease is associated with defective IL-10 production by CD4+ T cells. J Clin Invest 115:1049-1059

Ma CS, Pittaluga S, Avery DT et al 2006 Selective generation of functional somatically mutated IgMCD27, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease. J Clin Invest 116:322-333 Medvedev AE, Lentschat A, Kuhns DB et al 2003 Distinct mutations in IRAK-4 confer hypo-responsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med 198:521-531 Nichols KE, Hom J, Gong SY et al 2005a Regulation of NKT cell development by SAP, the protein defective in XLP. Nat Med 11:340-345 Nichols KE, Ma CS, Cannons JL, Schwartzberg PL, Tangye SG 2005b Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev 203:180-199 Notarangelo L, Casanova JL, Fischer A et al 2004 Primary immunodeficiency diseases: an update. J Allergy Clin Immunol 114:677-687 Parolini S, Bottino C, Falco M et al 2000 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 192:337-346 Pasquier B, Yin L, Fondaneche MC et al 2005 Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med 201:695-701

Picard C, Puel A, Bonnet M et al 2003a Pyogenic bacterial infections in humans with IRAK-4

deficiency. Science 299:2076-2079 Picard C, Puel A, Bustamante J, Ku CL, Casanova JL 2003b Primary immunodeficiencies associated with pneumococcal disease. Curr Opin Allergy Clin Immunol 3:451-459 Purtilo DT, Cassel CK, Yang JP, Harper R 1975 X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1:935-940 Ramoz N, Rueda LA, Bouadjar B et al 2002 Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 32:579-581 Sayos J, Wu C, Morra M et al 1998 The X-linked lymphoproliferative-disease gene product SAP

regulates signals induced through the co-receptor SLAM. Nature 395:462-469 Sharifi R, Sinclair JC, Gilmour KC et al 2004 SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease. Blood 103:3821-3827 Sullivan KE, Winkelstein JA 1999 Genetically determined deficiencies of the complement system. In: Ochs H, Edvard Smith CI, Puck JM (eds) Primary immunodefiency diseases: a molecular and genetic approach, Oxford University Press, p 397-418 Sun XK, Chen JF, Xu AE 2005 A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis. Clin Exp Dermatol 30:573-574 Takada H, Yoshikawa H, Imaizumi M et al 2006 Delayed separation of umbilical cord in two siblings with interleukin-1 receptor associated kinase 4 deficiency: Rapid screening by flow cytometer. J Pediatr 148:546-548 Tate G, Suzuki T, Kishimoto K, Mitsuya T 2004 Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. J Hum Genet 49:223-225 Vogt G, Chapgier A, Yang K et al 2005 Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 37:692-700 Wurzner R 2003 Deficiencies of the complement MAC II gene cluster (C6, C7, C9): is subtotal

C6 deficiency of particular evolutionary benefit? Clin Exp Immunol 133:156-159 Yang K, Puel A, Zhang S et al 2005 Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity 23:465-478

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