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Defects in Innate Immunity: Receptors and Signaling Components

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Primary Immunodeficiency Diseases

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References

  1. Abinun M (1995) Ectodermal dysplasia and immunodeficiency. Arch Dis Child 73:185

    Article  PubMed  CAS  Google Scholar 

  2. Abinun M, Spickett G, Appleton AL, Flood T, Cant AJ (1996) Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Eur J Pediatr 155:146–147

    Article  PubMed  CAS  Google Scholar 

  3. Allende LM, Lopez-Goyanes A, Paz-Artal E, Corell A, Garcia-Perez MA, Varela P, Scarpellini A, Negreira S, Palenque E, rnaiz-Villena A (2001) A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. Clin Diagn Lab Immunol 8:133–137

    PubMed  CAS  Google Scholar 

  4. Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le DF, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL (1998) Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280:1432–1435

    Article  PubMed  CAS  Google Scholar 

  5. Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A, Emile JF, Gaillard JL, Meinl E, Casanova JL (2001) Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 184:231–236

    Article  PubMed  CAS  Google Scholar 

  6. Altare F, Jouanguy E, Lamhamedi-Cherradi S, Fondaneche MC, Fizame C, Ribierre F, Merlin G, Dembic Z, Schreiber R, Lisowska-Grospierre B, Fischer A, Seboun E, Casanova JL (1998) A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. Am J Hum Genet 62:723–726

    Article  PubMed  CAS  Google Scholar 

  7. Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israel A, Nelson DL (2001) Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet 68:765–771

    Article  PubMed  CAS  Google Scholar 

  8. Arai J, Wakiguchi H, Hisakawa H, Kubota H, Kurashige T (2000) A variant of myelokathexis with hypogammaglobulinemia: lymphocytes as well as neutrophils may reverse in response to infections. Pediatr Hematol Oncol 17:171–176

    Article  PubMed  CAS  Google Scholar 

  9. Arend SM, Janssen R, Gosen JJ, Waanders H, de BT, Ottenhoff TH, van Dissel JT (2001) Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor. Neth J Med 59:140–151

    Article  PubMed  CAS  Google Scholar 

  10. Bach EA, Aguet M, Schreiber RD (1997) The IFN gamma receptor: a paradigm for cytokine receptor signaling. Annu Rev Immunol 15:563–591

    Article  PubMed  CAS  Google Scholar 

  11. Balabanian K, Lagane B, Pablos JL, Laurent L, Planchenault T, Verola O, Lebbe C, Kerob D, Dupuy A, Hermine O, Nicolas JF, Latger-Cannard V, Bensoussan D, Bordigoni P, Baleux F, Le DF, Virelizier JL, renzana-Seisdedos F, Bachelerie F (2005) WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood 105:2449–2457

    Article  PubMed  CAS  Google Scholar 

  12. Beutler B, Rehli M (2002) Evolution of the TIR, tolls and TLRs: functional inferences from computational biology. Curr Top Microbiol Immunol 270:1–21

    PubMed  CAS  Google Scholar 

  13. Blanchet-Bardon C, Lutzner MA (1985) Interferon and retinoid treatment of warts. Clin Dermatol 3:195–199

    Article  PubMed  CAS  Google Scholar 

  14. Bowie A, O’Neill LA (2000) The interleukin-1 receptor/Toll-like receptor superfamily: signal generators for pro-inflammatory interleukins and microbial products. J Leukoc Biol 67:508–514

    PubMed  CAS  Google Scholar 

  15. Camcioglu Y, Picard C, Lacoste V, Dupuis S, Akcakaya N, Cokura H, Kaner G, Demirkesen C, Plancoulaine S, Emile JF, Gessain A, Casanova JL (2004) HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. J Pediatr 144:519–523

    Article  PubMed  Google Scholar 

  16. Caragol I, Raspall M, Fieschi C, Feinberg J, Larrosa MN, Hernandez M, Figueras C, Bertran JM, Casanova JL, Espanol T (2003) Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis 37:302–306

    Article  PubMed  CAS  Google Scholar 

  17. Cardenes M, von BH, Garcia-Saavedra A, Santiago E, Puel A, Ku CL, Emile JF, Picard C, Casanova JL, Colino E, Bordes A, Garfia A, Rodriguez-Gallego C (2006) Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives. J Pediatr 148:549–551

    Article  PubMed  Google Scholar 

  18. Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M (2003) Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child 88:340–341

    Article  PubMed  CAS  Google Scholar 

  19. Casanova JL, Abel L (2002) Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 20:581–620

    Article  PubMed  CAS  Google Scholar 

  20. Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Senechal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Heron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL (2006) Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 314:308–312

    Article  PubMed  CAS  Google Scholar 

  21. Chae KM, Ertle JO, Tharp MD (2001) B-cell lymphoma in a patient with WHIM syndrome. J Am Acad Dermatol 44:124–128

    Article  PubMed  CAS  Google Scholar 

  22. Chantrain CF, Bruwier A, Brichard B, Largent V, Chapgier A, Feinberg J, Casanova JL, Stalens JP, Vermylen C (2006) Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. Bone Marrow Transplant 38:75–76

    Article  PubMed  CAS  Google Scholar 

  23. Chapel H, Puel A, von BH, 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

    Article  PubMed  CAS  Google Scholar 

  24. Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de BL, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rosen-Wolff A, Magdorf K, Roesler J, Casanova JL (2006) Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet 2:e131

    Article  PubMed  CAS  Google Scholar 

  25. Chapgier A, Wynn RF, Jouanguy E, Filipe-Santos O, Zhang S, Feinberg J, Hawkins K, Casanova JL, Arkwright PD (2006) Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol 176:5078–5083

    PubMed  CAS  Google Scholar 

  26. Courtois G, Smahi A (2006) NF-kappaB-related genetic diseases. Cell Death Differ 13:843–851

    Article  PubMed  CAS  Google Scholar 

  27. Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israel A, Munnich A, Le DF, Casanova JL (2003) A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 112:1108–1115

    PubMed  CAS  Google Scholar 

  28. Davidson DJ, Currie AJ, Bowdish DM, Brown KL, Rosenberger CM, Ma RC, Bylund J, Campsall PA, Puel A, Picard C, Casanova JL, Turvey SE, Hancock RE, Devon RS, Speert DP (2006) IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells. J Immunol 177:8202–8211

    PubMed  CAS  Google Scholar 

  29. Day N, Tangsinmankong N, Ochs H, Rucker R, Picard C, Casanova JL, Haraguchi S, Good R (2004) Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. J Pediatr 144:524–526

    Article  PubMed  Google Scholar 

  30. de JR, Altare F, Haagen IA, Elferink DG, Boer T, van B, V, Kabel PJ, Draaisma JM, van Dissel JT, Kroon FP, Casanova JL, Ottenhoff TH (1998) Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280:1435–1438

    Article  Google Scholar 

  31. Diaz GA (2005) CXCR4 mutations in WHIM syndrome: a misguided immune system? Immunol Rev 203: 235–243

    Article  PubMed  CAS  Google Scholar 

  32. Diaz GA, Gulino AV (2004) Whim syndrome. Orphanet Encyclopedia: 1–3

    Google Scholar 

  33. Diaz GA, Gulino AV (2005) WHIM syndrome: a defect in CXCR4 signaling. Curr Allergy Asthma Rep 5: 350–355

    Article  PubMed  CAS  Google Scholar 

  34. Doffinger R, Jouanguy E, Dupuis S, Fondaneche MC, Stephan JL, Emile JF, Lamhamedi-Cherradi S, Altare F, Pallier A, Barcenas-Morales G, Meinl E, Krause C, Pestka S, Schreiber RD, Novelli F, Casanova JL (2000) Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection. J Infect Dis 181:379–384

    Article  PubMed  CAS  Google Scholar 

  35. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le DF, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israel A, Courtois G, Casanova JL (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27:277–285

    Article  PubMed  CAS  Google Scholar 

  36. Dorman SE, Holland SM (1998) Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 101:2364–2369

    Article  PubMed  CAS  Google Scholar 

  37. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, Holland SM (2004) Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 364: 2113–2121

    Article  PubMed  CAS  Google Scholar 

  38. Dorman SE, Uzel G, Roesler J, Bradley JS, Bastian J, Billman G, King S, Filie A, Schermerhorn J, Holland SM (1999) Viral infections in interferon-gamma receptor deficiency. J Pediatr 135:640–643

    Article  PubMed  CAS  Google Scholar 

  39. Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, Holland SM, Schreiber RD, Casanova JL (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 293:300–303

    Article  PubMed  CAS  Google Scholar 

  40. Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al GA, Tufenkeji H, Frayha H, Al-Gazlan S, Al-Rayes H, Schreiber RD, Gresser I, Casanova JL (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33:388–391

    Article  PubMed  CAS  Google Scholar 

  41. Dupuis-Girod S, Cancrini C, Le DF, Palma P, Bodemer C, Puel A, Livadiotti S, Picard C, Bossuyt X, Rossi P, Fischer A, Casanova JL (2006) Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. Pediatrics 118:e205–e211

    Article  PubMed  Google Scholar 

  42. Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le DF, Durand P, Doffinger R, Smahi A, Israel A, Courtois G, Brousse N, Blanche S, Munnich A, Fischer A, Casanova JL, Bodemer C (2002) Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109:e97

    Article  PubMed  Google Scholar 

  43. Emile JF, Patey N, Altare F, Lamhamedi S, Jouanguy E, Boman F, Quillard J, Lecomte-Houcke M, Verola O, Mousnier JF, Dijoud F, Blanche S, Fischer A, Brousse N, Casanova JL (1997) Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection. J Pathol 181:25–30

    Article  PubMed  CAS  Google Scholar 

  44. Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S (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

    Article  PubMed  Google Scholar 

  45. Feinberg J, Fieschi C, Doffinger R, Feinberg M, Leclerc T, Boisson-Dupuis S, Picard C, Bustamante J, Chapgier A, Filipe-Santos O, Ku CL, de BL, Reichenbach J, Antoni G, Balde R, Alcais A, Casanova JL (2004) Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur J Immunol 34:3276–3284

    Article  PubMed  CAS  Google Scholar 

  46. Fieschi C, Bosticardo M, de BL, Boisson-Dupuis S, Feinberg J, Santos OF, Bustamante J, Levy J, Candotti F, Casanova JL (2004) A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. Blood 104:2095–2101

    Article  PubMed  CAS  Google Scholar 

  47. Fieschi C, Casanova JL (2003) The role of interleukin-12 in human infectious diseases: only a faint signature. Eur J Immunol 33:1461–1464

    Article  PubMed  CAS  Google Scholar 

  48. Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le DF, Kayal S, Koch H, Richter D, Brezina M, Aksu G, Wood P, Al-Jumaah S, Raspall M, Da Silva Duarte AJ, Tuerlinckx D, Virelizier JL, Fischer A, Enright A, Bernhoft J, Cleary AM, Vermylen C, Rodriguez-Gallego C, Davies G, Blutters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De M, V, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, Casanova JL (2003) Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 197:527–535

    Article  PubMed  CAS  Google Scholar 

  49. Fieschi C, Dupuis S, Picard C, Smith CI, Holland SM, Casanova JL (2001) High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency. Pediatrics 107:E48

    Article  PubMed  CAS  Google Scholar 

  50. Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de BL, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL (2006) Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 18:347–361

    Article  PubMed  CAS  Google Scholar 

  51. Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von BH, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de BL, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israel A, Veron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL (2006) X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 203:1745–1759

    Article  PubMed  CAS  Google Scholar 

  52. Flomenberg N, Devine SM, Dipersio JF, Liesveld JL, McCarty JM, Rowley SD, Vesole DH, Badel K, Calandra G (2005) The use of AMD3100 plus G-CSF for autologous hematopoietic progenitor cell mobilization is superior to G-CSF alone. Blood 106:1867–1874

    Article  PubMed  CAS  Google Scholar 

  53. Flomenberg N, Dipersio J, Calandra G (2005) Role of CXCR4 chemokine receptor blockade using AMD3100 for mobilization of autologous hematopoietic progenitor cells. Acta Haematol 114:198–205

    Article  PubMed  CAS  Google Scholar 

  54. Ghosh S, May MJ, Kopp EB (1998) NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses. Annu Rev Immunol 16:225–260

    Article  PubMed  CAS  Google Scholar 

  55. Glinski W, Obalek S, Jablonska S, Orth G (1981) T cell defect in patients with epidermodysplasia verruciformis due to human papillomavirus type 3 and 5. Dermatologica 162:141–147

    Article  PubMed  CAS  Google Scholar 

  56. Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR, Jr. (2000) WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet 91:368–376

    Article  PubMed  CAS  Google Scholar 

  57. Greenwald IS, Horvitz HR (1980) unc-93(e1500): A behavioral mutant of Caenorhabditis elegans that defines a gene with a wild-type null phenotype. Genetics 96:147–164

    PubMed  CAS  Google Scholar 

  58. Gubinelli E, Posteraro P, Cocuroccia B, Girolomoni G (2003) Epidermodysplasia verruciformis with multiple mucosal carcinomas treated with pegylated interferon alfa and acitretin. J Dermatolog Treat 14:184–188

    Article  PubMed  CAS  Google Scholar 

  59. Gulino AV (2003) WHIM syndrome: a genetic disorder of leukocyte trafficking. Curr Opin Allergy Clin Immunol 3:443–450

    Article  PubMed  CAS  Google Scholar 

  60. Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Notarangelo LD, Badolato R (2004) Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood 104:444–452

    Article  PubMed  CAS  Google Scholar 

  61. Haverkamp MH, van Dissel JT, Holland SM (2006) Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling. Microbes Infect 8:1157–1166

    Article  PubMed  CAS  Google Scholar 

  62. Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA (2003) Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet 34:70–74

    Article  PubMed  CAS  Google Scholar 

  63. Holland SM, Dorman SE, Kwon A, Pitha-Rowe IF, Frucht DM, Gerstberger SM, Noel GJ, Vesterhus P, Brown MR, Fleisher TA (1998) Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. J Infect Dis 178:1095–1104

    Article  PubMed  CAS  Google Scholar 

  64. Hord JD, Whitlock JA, Gay JC, Lukens JN (1997) Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature. J Pediatr Hematol Oncol 19:443–448

    Article  PubMed  CAS  Google Scholar 

  65. Horwitz ME, Uzel G, Linton GF, Miller JA, Brown MR, Malech HL, Holland SM (2003) Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency. Blood 102:2692–2694

    Article  PubMed  CAS  Google Scholar 

  66. Hoshino K, Takeuchi O, Kawai T, Sanjo H, Ogawa T, Takeda Y, Takeda K, Akira S (1999) Cutting edge: Toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysaccharide: evidence for TLR4 as the Lps gene product. J Immunol 162:3749–3752

    PubMed  CAS  Google Scholar 

  67. Imashuku S, Miyagawa A, Chiyonobu T, Ishida H, Yoshihara T, Teramura T, Kuriyama K, Imamura T, Hibi S, Morimoto A, Todo S (2002) Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis. Ann Hematol 81:470–473

    Article  PubMed  CAS  Google Scholar 

  68. Israel A (2000) The IKK complex: an integrator of all signals that activate NF-kappaB? Trends Cell Biol 10:129–133

    Article  PubMed  CAS  Google Scholar 

  69. Jablonska S, Dabrowski J, Jakubowicz K (1972) Epidermodysplasia verruciformis as a model in studies on the role of papovaviruses in oncogenesis. Cancer Res 32:583–589

    PubMed  CAS  Google Scholar 

  70. Jablonska S, Orth G (1985) Epidermodysplasia verruciformis. Clin Dermatol 3:83–96

    Article  PubMed  CAS  Google Scholar 

  71. Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2:223–228

    Article  PubMed  CAS  Google Scholar 

  72. Jain A, Ma CA, Lopez-Granados E, Means G, Brady W, Orange JS, Liu S, Holland S, Derry JM (2004) Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation. J Clin Invest 114:1593–1602

    PubMed  CAS  Google Scholar 

  73. Janssen R, van WA, Hoeve MA, ten DM, van der BM, van DJ, van d, V, van TM, Bredius R, Ottenhoff TH, Weemaes C, van Dissel JT, Lankester A (2004) The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med 200:559–568

    Article  PubMed  CAS  Google Scholar 

  74. Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL (1996) Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 335:1956–1961

    Article  PubMed  CAS  Google Scholar 

  75. Jouanguy E, Dupuis S, Pallier A, Doffinger R, Fondaneche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova JL (2000) In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest 105:1429–1436

    Article  PubMed  CAS  Google Scholar 

  76. Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondaneche MC, Tuerlinckx D, Blanche S, Emile JF, Gaillard JL, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova JL (1997) Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J Clin Invest 100:2658–2664

    Article  PubMed  CAS  Google Scholar 

  77. Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondaneche MC, Dupuis S, Doffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL (1999) A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 21:370–378

    Article  PubMed  CAS  Google Scholar 

  78. Jouanguy E, Zhang SY, Chapgier A, Sancho-Shimizu V, Puel A, Picard C, Boisson-Dupuis S, Abel L, Casanova JL (2007) Human primary immunodeficiencies of type I interferons. Biochimie 89:878–883

    Article  PubMed  CAS  Google Scholar 

  79. Karin M, Ben-Neriah Y (2000) Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity. Annu Rev Immunol 18:621–663

    Article  PubMed  CAS  Google Scholar 

  80. Kashuba VI, Protopopov AI, Kvasha SM, Gizatullin RZ, Wahlestedt C, Kisselev LL, Klein G, Zabarovsky ER (2002) hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein. Gene 283:209–217

    Article  PubMed  CAS  Google Scholar 

  81. Kawai T, Akira S (2006) TLR signaling. Cell Death Differ 13:816–825

    Article  PubMed  CAS  Google Scholar 

  82. Kawai T, Choi U, Cardwell L, Deravin SS, Naumann N, Whiting-Theobald NL, Linton GF, Moon J, Murphy PM, Malech HL (2006) WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus truncated CXCR4. Blood 109:78–84

    Article  PubMed  CAS  Google Scholar 

  83. Kawai T, Choi U, Whiting-Theobald NL, Linton GF, Brenner S, Sechler JM, Murphy PM, Malech HL (2005) Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome. Exp Hematol 33:460–468

    Article  PubMed  CAS  Google Scholar 

  84. Kosaki K, Shimasaki N, Fukushima H, Hara M, Ogata T, Matsuo N (2001) Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). Am J Hum Genet 69:664–666

    Article  PubMed  CAS  Google Scholar 

  85. Koscielniak E, de BT, Dupuis S, Naumann L, Casanova JL, Ottenhoff TH (2003) Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency. Pediatr Infect Dis J 22:378–380

    PubMed  Google Scholar 

  86. Ku CL, von BH, Picard C, Zhang SY, Chang HH, Yang K, Chrabieh M, Issekutz AC, Cunningham CK, Gallin J, Holland SM, Roifman C, Ehl S, Smart J, Tang M, Barrat FJ, Levy O, McDonald D, Day-Good NK, Miller R, Takada H, Hara T, Al-Hajjar S, Al-Ghonaium A, Speert D, Sanlaville D, Li X, Geissmann F, Vivier E, Marodi L, Garty BZ, Chapel H, Rodriguez-Gallego C, Bossuyt X, Abel L, Puel A, Casanova JL (2007) Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med 204:2407–2422

    Article  PubMed  CAS  Google Scholar 

  87. Ku CL, Yang K, Bustamante J, Puel A, von BH, Santos OF, Lawrence T, Chang HH, Al-Mousa H, Picard C, Casanova JL (2005) Inherited disorders of human Toll-like receptor signaling: immunological implications. Immunol Rev 203:10–20

    Article  PubMed  CAS  Google Scholar 

  88. Lapidot T, Kollet O (2002) The essential roles of the chemokine SDF-1 and its receptor CXCR4 in human stem cell homing and repopulation of transplanted immune-deficient NOD/SCID and NOD/SCID/B2m(null) mice. Leukemia 16:1992–2003

    Article  PubMed  CAS  Google Scholar 

  89. Levin JZ, Horvitz HR (1992) The Caenorhabditis elegans unc-93 gene encodes a putative transmembrane protein that regulates muscle contraction. J Cell Biol 117: 143–155

    Article  PubMed  CAS  Google Scholar 

  90. Lewandowsky F, Lutz W (1922) Ein Fall einer bisher nicht beschriebenen Hauterkrankung (Epidermodysplasia verruciformis). Arch Dermatol Syphilol 141: 193–203

    Article  Google Scholar 

  91. Lutzner MA (1978) Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. Bull Cancer 65:169–182

    PubMed  CAS  Google Scholar 

  92. Lutzner MA, Blanchet-Bardon C, Orth G (1984) Clinical observations, virologic studies, and treatment trials in patients with epidermodysplasia verruciformis, a disease induced by specific human papillomaviruses. J Invest Dermatol 83:18s–25s

    Article  PubMed  CAS  Google Scholar 

  93. MacLennan C, Fieschi C, Lammas DA, Picard C, Dorman SE, Sanal O, MacLennan JM, Holland SM, Ottenhoff TH, Casanova JL, Kumararatne DS (2004) Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis 190:1755–1757

    Article  PubMed  CAS  Google Scholar 

  94. Majewski S, Jablonska S, Orth G (1997) Epidermodysplasia verruciformis. Immunological and nonimmunological surveillance mechanisms: role in tumor progression. Clin Dermatol 15:321–334

    Article  PubMed  CAS  Google Scholar 

  95. Majewski S, Malejczyk J, Jablonska S, Misiewicz J, Rudnicka L, Obalek S, Orth G (1990) Natural cell-mediated cytotoxicity against various target cells in patients with epidermodysplasia verruciformis. J Am Acad Dermatol 22:423–427

    Article  PubMed  CAS  Google Scholar 

  96. Majewski S, Skopinska-Rozewska E, Jablonska S, Wasik M, Misiewicz J, Orth G (1986) Partial defects of cell-mediated immunity in patients with epidermodysplasia verruciformis. J Am Acad Dermatol 15:966–973

    Article  PubMed  CAS  Google Scholar 

  97. Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 99:172–177

    Article  PubMed  CAS  Google Scholar 

  98. Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N (2005) A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum Genet 118: 458–465

    Article  PubMed  Google Scholar 

  99. Medvedev AE, Lentschat A, Kuhns DB, Blanco JC, Salkowski C, Zhang S, Arditi M, Gallin JI, Vogel SN (2003) Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med 198:521–531

    Article  PubMed  CAS  Google Scholar 

  100. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H (2006) Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 25:745–755

    Article  PubMed  CAS  Google Scholar 

  101. Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M (1996) A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 335:1941–1949

    Article  PubMed  CAS  Google Scholar 

  102. Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, Lainka E, Dirksen U, Schroten H, Doffinger R, Casanova JL, Wahn V (2004) Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol 114:1456–1462

    Article  PubMed  Google Scholar 

  103. Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, Yachie A, Yasumi T, Kusunoki T, Heike T, Nakahata T (2004) X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 103:4565–4572

    Article  PubMed  CAS  Google Scholar 

  104. Nuovo GJ, Ishag M (2000) The histologic spectrum of epidermodysplasia verruciformis. Am J Surg Pathol 24:1400–1406

    Article  PubMed  CAS  Google Scholar 

  105. O’Neill LA, Fitzgerald KA, Bowie AG (2003) The Toll-IL-1 receptor adaptor family grows to five members. Trends Immunol 24:286–290

    Article  PubMed  CAS  Google Scholar 

  106. Orange JS, Brodeur SR, Jain A, Bonilla FA, Schneider LC, Kretschmer R, Nurko S, Rasmussen WL, Kohler JR, Gellis SE, Ferguson BM, Strominger JL, Zonana J, Ramesh N, Ballas ZK, Geha RS (2002) Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest 109:1501–1509

    PubMed  CAS  Google Scholar 

  107. Orange JS, Harris KE, Andzelm MM, Valter MM, Geha RS, Strominger JL (2003) The mature activating natural killer cell immunologic synapse is formed in distinct stages. Proc Natl Acad Sci U S A 100:14151–14156

    Article  PubMed  CAS  Google Scholar 

  108. Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA (2004) The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol 113:725–733

    Article  PubMed  CAS  Google Scholar 

  109. Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, Fleisher TA, Bonilla FA, Geha RS (2004) Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol 114:650–656

    Article  PubMed  CAS  Google Scholar 

  110. Orange JS, Levy O, Geha RS (2005) Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 203:21–37

    Article  PubMed  CAS  Google Scholar 

  111. Orstavik KH, Kristiansen M, Knudsen GP, Storhaug K, Vege A, Eiklid K, Abrahamsen TG, Smahi A, Steen-Johnsen J (2006) Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. Am J Med Genet A 140:31–39

    PubMed  Google Scholar 

  112. Orth G (1986) Epidermodysplasia verruciformis: a model for understanding the oncogenicity of human papillomaviruses. Ciba Found Symp 120:157–174

    PubMed  CAS  Google Scholar 

  113. Orth G (2006) Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses. Semin Immunol 18:362–374

    Article  PubMed  CAS  Google Scholar 

  114. Ostrow RS, Bender M, Niimura M, Seki T, Kawashima M, Pass F, Faras AJ (1982) Human papillomavirus DNA in cutaneous primary and metastasized squamous cell carcinomas from patients with epidermodysplasia verruciformis. Proc Natl Acad Sci USA 79:1634–1638

    Article  PubMed  CAS  Google Scholar 

  115. Ozbek N, Fieschi C, Yilmaz BT, de BL, Demirhan B, Feinberg J, Bikmaz YE, Casanova JL (2005) Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis 40:e55–e58

    Article  PubMed  Google Scholar 

  116. Picard C, Casanova JL (2004) Inherited disorders of cytokines. Curr Opin Pediatr 16:648–658

    Article  PubMed  Google Scholar 

  117. Picard C, Casanova JL (2005) Novel primary immunodeficiencies. Adv Exp Med Biol 568:89–99

    Article  PubMed  CAS  Google Scholar 

  118. Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Genin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL (2002) Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 70:336–348

    Article  PubMed  CAS  Google Scholar 

  119. Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL (2003) Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299:2076–2079

    Article  PubMed  CAS  Google Scholar 

  120. Picard C, Puel A, Bustamante J, Ku CL, Casanova JL (2003) Primary immunodeficiencies associated with pneumococcal disease. Curr Opin Allergy Clin Immunol 3:451–459

    Article  PubMed  Google Scholar 

  121. Pierre-Audigier C, Jouanguy E, Lamhamedi S, Altare F, Rauzier J, Vincent V, Canioni D, Emile JF, Fischer A, Blanche S, Gaillard JL, Casanova JL (1997) Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin Infect Dis 24:982–984

    PubMed  CAS  Google Scholar 

  122. Puel A, Picard C, Ku CL, Smahi A, Casanova JL (2004) Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol 16:34–41

    Article  PubMed  CAS  Google Scholar 

  123. Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Doffinger R, Bonnet M, Filipe-Santos O, Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL (2006) The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet 78:691–701

    Article  PubMed  CAS  Google Scholar 

  124. Ramoz N, Rueda LA, Bouadjar B, Favre M, Orth G (1999) A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. J Invest Dermatol 112:259–263

    Article  PubMed  CAS  Google Scholar 

  125. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (2002) Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 32:579–581

    Article  PubMed  CAS  Google Scholar 

  126. Ramoz N, Taieb A, Rueda LA, Montoya LS, Bouadjar B, Favre M, Orth G (2000) Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21–p24 and 17q25. J Invest Dermatol 114:1148–1153

    Article  PubMed  CAS  Google Scholar 

  127. Remiszewski P, Roszkowska-Sliz B, Winek J, Chapgier A, Feinberg J, Langfort R, Bestry I, ugustynowicz-Kopec E, Ptak J, Casanova JL, Rowinska-Zakrzewska E (2006) Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency. Respiration 73:375–378

    Article  PubMed  Google Scholar 

  128. Roesler J, Horwitz ME, Picard C, Bordigoni P, Davies G, Koscielniak E, Levin M, Veys P, Reuter U, Schulz A, Thiede C, Klingebiel T, Fischer A, Holland SM, Casanova JL, Friedrich W (2004) Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. J Pediatr 145:806–812

    Article  PubMed  CAS  Google Scholar 

  129. Roesler J, Kofink B, Wendisch J, Heyden S, Paul D, Friedrich W, Casanova JL, Leupold W, Gahr M, Rosen-Wolff A (1999) Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options. Exp Hematol 27:1368–1374

    Article  PubMed  CAS  Google Scholar 

  130. Rosenzweig SD, Dorman SE, Uzel G, Shaw S, Scurlock A, Brown MR, Buckley RH, Holland SM (2004) A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol 173:4000–4008

    PubMed  CAS  Google Scholar 

  131. Rosenzweig SD Holland SM (2005) Defects in the interferon-gamma and interleukin-12 pathways. Immunol Rev 203:38–47

    Article  PubMed  CAS  Google Scholar 

  132. Sanal O, Turkkani G, Gumruk F, Yel L, Secmeer G, Tezcan I, Kara A, Ersoy F (2007) A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis. Pediatr Infect Dis J 26:366–368

    Article  PubMed  Google Scholar 

  133. Sanmun D, Garwicz D, Smith CI, Palmblad J, Fadeel B (2006) Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation. Br J Haematol 134: 640–644

    Article  PubMed  Google Scholar 

  134. Schroder M Bowie AG (2005) TLR3 in antiviral immunity: key player or bystander? Trends Immunol 26:462–468

    Article  PubMed  CAS  Google Scholar 

  135. Suratt BT, Petty JM, Young SK, Malcolm KC, Lieber JG, Nick JA, Gonzalo JA, Henson PM, Worthen GS (2004) Role of the CXCR4/SDF-1 chemokine axis in circulating neutrophil homeostasis. Blood 104: 565–571

    Article  PubMed  CAS  Google Scholar 

  136. Suzuki N, Suzuki S, Yeh WC (2002) IRAK-4 as the central TIR signaling mediator in innate immunity. Trends Immunol 23:503–506

    Article  PubMed  CAS  Google Scholar 

  137. Tabeta K, Hoebe K, Janssen EM, Du X, Georgel P, Crozat K, Mudd S, Mann N, Sovath S, Goode J, Shamel L, Herskovits AA, Portnoy DA, Cooke M, Tarantino LM, Wiltshire T, Steinberg BE, Grinstein S, Beutler B (2006) The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9. Nat Immunol 7:156–164

    Article  PubMed  CAS  Google Scholar 

  138. Takeda K, Akira S (2005) Toll-like receptors in innate immunity. Int Immunol 17:1–14

    Article  PubMed  CAS  Google Scholar 

  139. Takeda K, Kaisho T, Akira S (2003) Toll-like receptors. Annu Rev Immunol 21:335–376

    Article  PubMed  CAS  Google Scholar 

  140. Takeuchi O, Kawai T, Sanjo H, Copeland NG, Gilbert DJ, Jenkins NA, Takeda K, Akira S (1999) TLR6: A novel member of an expanding toll-like receptor family. Gene 231:59–65

    Article  PubMed  CAS  Google Scholar 

  141. Takeuchi O, Sato S, Horiuchi T, Hoshino K, Takeda K, Dong Z, Modlin RL, Akira S (2002) Cutting edge: role of Toll-like receptor 1 in mediating immune response to microbial lipoproteins. J Immunol 169:10–14

    PubMed  CAS  Google Scholar 

  142. Tanigaki T, Kanda R, Yutsudo M, Hakura A (1986) Epidemiologic aspects of epidermodysplasia verruciformis (L-L 1922) in Japan. Jpn J Cancer Res 77:896–900

    PubMed  CAS  Google Scholar 

  143. teenyi-Agaba C, Dai M, Le CF, Katongole-Mbidde E, Smet A, Tommasino M, Franceschi S, Hainaut P, Weiderpass E (2004) TP53 mutations in squamous-cell carcinomas of the conjunctiva: evidence for UV-induced mutagenesis. Mutagenesis 19:399–401

    Article  Google Scholar 

  144. Termorshuizen F, Feltkamp MC, Struijk L, de Gruijl FR, Bavinck JN, van LH (2004) Sunlight exposure and (sero) prevalence of epidermodysplasia verruciformis-associated human papillomavirus. J Invest Dermatol 122:1456–1462

    Article  PubMed  CAS  Google Scholar 

  145. Trinchieri G (2003) Interleukin-12 and the regulation of innate resistance and adaptive immunity. Nat Rev Immunol 3:133–146

    Article  PubMed  CAS  Google Scholar 

  146. Uzel G (2005) The range of defects associated with nuclear factor kappaB essential modulator. Curr Opin Allergy Clin Immunol 5:513–518

    Article  PubMed  CAS  Google Scholar 

  147. Villella A, Picard C, Jouanguy E, Dupuis S, Popko S, Abughali N, Meyerson H, Casanova JL, Hostoffer RW (2001) Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation. Pediatrics 107:E47

    Article  PubMed  CAS  Google Scholar 

  148. Vogel SN, Awomoyi AA, Rallabhandi P, Medvedev AE (2005) Mutations in TLR4 signaling that lead to increased susceptibility to infection in humans: an overview. J Endotoxin Res 11:333–339

    PubMed  CAS  Google Scholar 

  149. Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de BL, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle MO, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL (2005) Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 37:692–700

    Article  PubMed  CAS  Google Scholar 

  150. von BH, Ku CL, Rodriguez-Gallego C, Zhang S, Garty BZ, Marodi L, Chapel H, Chrabieh M, Miller RL, Picard C, Puel A, Casanova JL (2006) A fast procedure for the detection of defects in Toll-like receptor signaling. Pediatrics 118:2498–2503

    Article  Google Scholar 

  151. Waibel KH, Regis DP, Uzel G, Rosenzweig SD, Holland SM (2002) Fever and leg pain in a 42-month-old. Ann Allergy Asthma Immunol 89:239–243

    Article  PubMed  Google Scholar 

  152. Ward CM, Jyonouchi H, Kotenko SV, Smirnov SV, Patel R, Aguila H, McSherry G, Dashefsky B, Holland SM (2007) Adjunctive treatment of disseminated Mycobacterium avium complex infection with interferon alpha-2b in a patient with complete interferon-gamma receptor R1 deficiency. Eur J Pediatr 166:981–985

    Article  PubMed  CAS  Google Scholar 

  153. Watford WT, Moriguchi M, Morinobu A, O’Shea JJ (2003) The biology of IL-12: coordinating innate and adaptive immune responses. Cytokine Growth Factor Rev 14:361–368

    Article  PubMed  CAS  Google Scholar 

  154. Weston B, Axtell RA, Todd RF, III, Vincent M, Balazovich KJ, Suchard SJ, Boxer LA (1991) Clinical and biologic effects of granulocyte colony stimulating factor in the treatment of myelokathexis. J Pediatr 118:229–234

    Article  PubMed  CAS  Google Scholar 

  155. Wetzler M, Talpaz M, Kellagher MJ, Gutterman JU, Kurzrock R (1992) Myelokathexis: normalization of neutrophil counts and morphology by GM-CSF. JAMA 267:2179–2180

    Article  PubMed  CAS  Google Scholar 

  156. Wetzler M, Talpaz M, Kleinerman ES, King A, Huh YO, Gutterman JU, Kurzrock R (1990) A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am J Med 89:663–672

    Article  PubMed  CAS  Google Scholar 

  157. Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, Segal D, Sancho-Shimizu V, Lorenzo L, Puel A, Picard C, Chapgier A, Plancoulaine S, Titeux M, Cognet C, von BH, Ku CL, Casrouge A, Zhang XX, Barreiro L, Leonard J, Hamilton C, Lebon P, Heron B, Vallee L, Quintana-Murci L, Hovnanian A, Rozenberg F, Vivier E, Geissmann F, Tardieu M, Abel L, Casanova JL (2007) TLR3 Deficiency in Patients with Herpes Simplex Encephalitis. Science 317:1522–1527

    Article  PubMed  CAS  Google Scholar 

  158. Zuelzer WW (1964) “Myelokathexis” – A new form of chronic granulocytopenia. Report of a case. N Engl J Med 270:699–704

    Article  PubMed  CAS  Google Scholar 

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Parvaneh, N., Roesler, J., Holland, S.M., Niehues, T. (2008). Defects in Innate Immunity: Receptors and Signaling Components. In: Rezaei, N., Aghamohammadi, A., Notarangelo, L.D. (eds) Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-78936-9_6

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