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Defects in Innate Immunity: Receptors and Signaling Components

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Clinical Cases in Primary Immunodeficiency Diseases

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Abstract

The innate immune system is the first-line host defense against microbial pathogens and is mediated by pattern recognition receptors (PRRs), including Toll-like receptors (TLRs) and nucleotide-binding and oligomerization domain (NOD)-like receptors (NLR). PRPs consist of secreted and circulating proteins, and intracellular and transmembrane signal-transducing components [1]. They recognize pathogen-associated molecular patterns (PAMPs).

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References

  1. Medzhitov R, Janeway CA Jr (1997) Innate immunity: impact on the adaptive immune response. Curr Opin Immunol 9(1):4–9

    Article  PubMed  CAS  Google Scholar 

  2. Medzhitov R, Janeway CA Jr (2002) Decoding the patterns of self and nonself by the innate immune system. Science 296(5566):298–300

    Article  PubMed  CAS  Google Scholar 

  3. Cottle LE (2011) Mendelian susceptibility to mycobacterial disease. Clin Genet 79(1):17–22

    Article  PubMed  CAS  Google Scholar 

  4. Picard C, von Bernuth H, Ku CL, Yang K, Puel A, Casanova JL (2007) Inherited human IRAK-4 deficiency: an update. Immunol Res 38(1–3):347–352

    Article  PubMed  CAS  Google Scholar 

  5. Kawai T, Malech HL (2009) WHIM syndrome: congenital immune deficiency disease. Curr Opin Hematol 16(1):20–26

    Article  PubMed  CAS  Google Scholar 

  6. Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, Picard C, Abel L, Jouanguy E, Casanova JL (2008) Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol Rev 226:29–40

    Article  PubMed  CAS  Google Scholar 

  7. Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, 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 Vasconcelos Moraes D, 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(4):527–535

    Article  PubMed  CAS  Google Scholar 

  8. Rosenzweig S, Dorman SE, Roesler J, Palacios J, Zelazko M, Holland SM (2002) 561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain. Clin Immunol 102(1):25–27

    Article  PubMed  CAS  Google Scholar 

  9. 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(6):4000–4008

    PubMed  CAS  Google Scholar 

  10. Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, 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(3):388–391

    Article  PubMed  CAS  Google Scholar 

  11. 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(9451):2113–2121

    Article  PubMed  CAS  Google Scholar 

  12. Yancoski J, Rocco C, Bernasconi A, Oleastro M, Bezrodnik L, Vratnica C, Haerynck F, Rosenzweig SD (2009) A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants. Infect Genet Evol 9(4):574–580

    Article  PubMed  CAS  Google Scholar 

  13. Staretz-Haham O, Melamed R, Lifshitz M, Porat N, Fieschi C, Casanova JL, Levy J (2003) Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection. Clin Infect Dis 37(1):137–140

    Article  PubMed  Google Scholar 

  14. 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(5):745–755

    Article  PubMed  CAS  Google Scholar 

  15. Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, Orange JS (2008) Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol 122(6):1169–1177, e1116

    Article  PubMed  CAS  Google Scholar 

  16. Han TI, Kim IO, Kim WS, Yeon KM (2000) Disseminated BCG infection in a patient with severe combined immunodeficiency. Korean J Radiol 1(2):114–117

    Article  PubMed  CAS  Google Scholar 

  17. Kroger L, Korppi M, Brander E, Kroger H, Wasz-Hockert O, Backman A, Rapola J, Launiala K, Katila ML (1995) Osteitis caused by bacille Calmette-Guerin vaccination: a retrospective analysis of 222 cases. J Infect Dis 172(2):574–576

    Article  PubMed  CAS  Google Scholar 

  18. Lotte A, Wasz-Hockert O, Poisson N, Engbaek H, Landmann H, Quast U, Andrasofszky B, Lugosi L, Vadasz I, Mihailescu P et al (1988) Second IUATLD study on complications induced by intradermal BCG-vaccination. Bull Int Union Tuberc Lung Dis 63(2):47–59

    PubMed  CAS  Google Scholar 

  19. Milstien JB, Gibson JJ (1990) Quality control of BCG by WHO: a review of factors that may influence vaccine effectiveness and safety. Bull World Health Organ 68:93–108

    PubMed  CAS  Google Scholar 

  20. Fine PEM, Carneiro IAM, Milstien JB, Clements CJ (1999) Issues relating to the use of BCG immunization programmes—a discussion document. World Health Organization (WHO) document WHO/V&B/9923. WHO, Geneva

    Google Scholar 

  21. Romanus V, Fasth A, Tordai P, Wiholm BE (1993) Adverse reactions in healthy and immunocompromised children under six years of age vaccinated with the Danish BCG vaccine, strain Copenhagen 1331: implications for the vaccination policy in Sweden. Acta Paediatr 82(12):1043–1052

    Article  PubMed  CAS  Google Scholar 

  22. Al-Arabi KM, Al-Khider ME, Sadiq S (1984) Osteitis of the humerus following BCG vaccination. Tubercle 65(4):305–307

    Article  PubMed  CAS  Google Scholar 

  23. Krepela V, Galliova J, Kubec V, Marik J (1992) The effect of reduced doses of BCG vaccine on the occurrence of osseous complications after vaccination. Cesk Pediatr 47(3):134–136

    PubMed  CAS  Google Scholar 

  24. Banac S, Franulovic J (1997) Familial liability to complications after BCG vaccination. Acta Paediatr 86(8):899–902

    Article  PubMed  CAS  Google Scholar 

  25. Talbot EA, Perkins MD, Silva SF, Frothingham R (1997) Disseminated bacille Calmette-Guerin disease after vaccination: case report and review. Clin Infect Dis 24(6):1139–1146

    Article  PubMed  CAS  Google Scholar 

  26. Hesseling AC, Rabie H, Marais BJ, Manders M, Lips M, Schaaf HS, Gie RP, Cotton MF, van Helden PD, Warren RM, Beyers N (2006) Bacille Calmette-Guerin vaccine-induced disease in HIV-infected and HIV-uninfected children. Clin Infect Dis 42(4):548–558

    Article  PubMed  CAS  Google Scholar 

  27. Reichenbach J, Rosenzweig S, Doffinger R, Dupuis S, Holland SM, Casanova JL (2001) Mycobacterial diseases in primary immunodeficiencies. Curr Opin Allergy Clin Immunol 1(6):503–511

    Article  PubMed  CAS  Google Scholar 

  28. Casanova JL, Blanche S, Emile JF, Jouanguy E, Lamhamedi S, Altare F, Stephan JL, Bernaudin F, Bordigoni P, Turck D, Lachaux A, Albertini M, Bourrillon A, Dommergues JP, Pocidalo MA, Le Deist F, Gaillard JL, Griscelli C, Fischer A (1996) Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study. Pediatrics 98(4 Pt 1):774–778

    PubMed  CAS  Google Scholar 

  29. Bahri I, Boudawara T, Makni S, Kharrat M, Triki A, Ben H, Jlidi R (2001) Disseminated BCG infection: a four case study. Med Mal Infect 31:519–553

    Google Scholar 

  30. Remus N, Reichenbach J, Picard C, Rietschel C, Wood P, Lammas D, Kumararatne DS, Casanova JL (2001) Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood. Pediatr Res 50(1):8–13

    Article  PubMed  CAS  Google Scholar 

  31. McKusick VA (1998) Mendelian inheritance in man: catalogs of human genes and genetic disorders. Johns Hopkins University Press, Baltimore, MD

    Google Scholar 

  32. Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, 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(6):347–361

    Article  PubMed  CAS  Google Scholar 

  33. Farrar MA, Schreiber RD (1993) The molecular cell biology of interferon-gamma and its receptor. Annu Rev Immunol 11:571–611

    Article  PubMed  CAS  Google Scholar 

  34. Schroder K, Hertzog PJ, Ravasi T, Hume DA (2004) Interferon-gamma: an overview of ­signals, mechanisms and functions. J Leukoc Biol 75(2):163–189

    Article  PubMed  CAS  Google Scholar 

  35. Schreiber RD, Farrar MA (1993) The biology and biochemistry of interferon-gamma and its receptor. Gastroenterol Jpn 28(Suppl 4):88–94, discussion 95–86

    PubMed  CAS  Google Scholar 

  36. 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 

  37. Stark GR, Kerr IM, Williams BR, Silverman RH, Schreiber RD (1998) How cells respond to interferons. Annu Rev Biochem 67:227–264

    Article  PubMed  CAS  Google Scholar 

  38. Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA (2005) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33(Database issue):D514–D517

    Article  PubMed  CAS  Google Scholar 

  39. Levin M, Newport MJ, D’Souza S, Kalabalikis P, Brown IN, Lenicker HM, Agius PV, Davies EG, Thrasher A, Klein N et al (1995) Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet 345(8942):79–83

    Article  PubMed  CAS  Google Scholar 

  40. Casanova JL, Jouanguy E, Lamhamedi S, Blanche S, Fischer A (1995) Immunological conditions of children with BCG disseminated infection. Lancet 346(8974):581

    Article  PubMed  CAS  Google Scholar 

  41. Dorman SE, Holland SM (2000) Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev 11(4):321–333

    Article  PubMed  CAS  Google Scholar 

  42. 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 

  43. Alcais A, Fieschi C, Abel L, Casanova JL (2005) Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 202(12):1617–1621

    Article  PubMed  CAS  Google Scholar 

  44. 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(10):1755–1757

    Article  PubMed  CAS  Google Scholar 

  45. 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(2):336–348

    Article  PubMed  CAS  Google Scholar 

  46. 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(9):1368–1374

    Article  PubMed  CAS  Google Scholar 

  47. Moraes-Vasconcelos D, Grumach AS, Yamaguti A, Andrade ME, Fieschi C, de Beaucoudrey L, Casanova JL, Duarte AJ (2005) Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor. Clin Infect Dis 41(4):e31–e37

    Article  PubMed  Google Scholar 

  48. Zerbe CS, Holland SM (2005) Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency. Clin Infect Dis 41(4):e38–e41

    Article  PubMed  Google Scholar 

  49. 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(4):366–368

    Article  PubMed  Google Scholar 

  50. 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(4):519–523

    Article  PubMed  Google Scholar 

  51. Rezaei N, Bonilla FA, Sullivan KE, de Vries E, Orange JS (2008) An introduction to primary immunodeficiency diseases. In: Rezaei N, Aghamohammadi A, Notarangelo LD (eds) Primary immunodeficiency diseases. Springer, Berlin Heidelberg

    Chapter  Google Scholar 

  52. de Vries E (2006) Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol 145(2):204–214

    Article  PubMed  Google Scholar 

  53. Slatter MA, Gennery AR (2008) Clinical immunology review series: an approach to the patient with recurrent infections in childhood. Clin Exp Immunol 152(3):389–396

    Article  PubMed  CAS  Google Scholar 

  54. Al-Muhsen S, Casanova JL (2008) The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol 122(6):1043–1051, quiz 1052–1043

    Article  PubMed  CAS  Google Scholar 

  55. Lichtenauer-Kaligis EG, de Boer T, Verreck FA, van Voorden S, Hoeve MA, van de Vosse E, Ersoy F, Tezcan I, van Dissel JT, Sanal O, Ottenhoff TH (2003) Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency. Eur J Immunol 33(1):59–69

    Article  PubMed  CAS  Google Scholar 

  56. Sanal O, Turul T, De Boer T, Van de Vosse E, Yalcin I, Tezcan I, Sun C, Memis L, Ottenhoff TH, Ersoy F (2006) Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections. J Clin Immunol 26(1):1–6

    Article  PubMed  CAS  Google Scholar 

  57. 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(1):25–30

    Article  PubMed  CAS  Google Scholar 

  58. Altare F, Jouanguy E, Lamhamedi S, Doffinger R, Fischer A, Casanova JL (1998) Mendelian susceptibility to mycobacterial infection in man. Curr Opin Immunol 10(4):413–417

    Article  PubMed  CAS  Google Scholar 

  59. Picard C, Baud O, Fieschi C, Casanova JL (2000) Diagnosis and management of inheritable disorders of interferon-g-mediated immunity. Immunol Allergy Clin North Am 20:65–76

    Article  Google Scholar 

  60. Rosenzweig SD, Holland SM (2004) Phagocyte immunodeficiencies and their infections. J Allergy Clin Immunol 113(4):620–626

    Article  PubMed  CAS  Google Scholar 

  61. 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 Beaucoudrey L, 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(8):e131

    Article  PubMed  Google Scholar 

  62. Sorensen RU, Leiva LE, Javier FC 3rd, Sacerdote DM, Bradford N, Butler B, Giangrosso PA, Moore C (1998) Influence of age on the response to Streptococcus pneumoniae vaccine in patients with recurrent infections and normal immunoglobulin concentrations. J Allergy Clin Immunol 102(2):215–221

    Article  PubMed  CAS  Google Scholar 

  63. Sorensen RU, Leiva LE, Giangrosso PA, Butler B, Javier FC 3rd, Sacerdote DM, Bradford N, Moore C (1998) Response to a heptavalent conjugate Streptococcus pneumoniae vaccine in children with recurrent infections who are unresponsive to the polysaccharide vaccine. Pediatr Infect Dis J 17(8):685–691

    Article  PubMed  CAS  Google Scholar 

  64. Picard C, Puel A, Bustamante J, Ku CL, Casanova JL (2003) Primary immunodeficiencies associated with pneumococcal disease. Curr Opin Allergy Clin Immunol 3(6):451–459

    Article  PubMed  Google Scholar 

  65. Wurzner R (2003) Complement and infectious diseases. Contrib Microbiol 10:1–17

    Article  PubMed  CAS  Google Scholar 

  66. Ku CL, Picard C, Erdos M, Jeurissen A, Bustamante J, Puel A, von Bernuth H, Filipe-Santos O, Chang HH, Lawrence T, Raes M, Marodi L, Bossuyt X, Casanova JL (2007) IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. J Med Genet 44(1):16–23

    Article  PubMed  CAS  Google Scholar 

  67. Jiao H, Toth B, Erdos M, Fransson I, Rakoczi E, Balogh I, Magyarics Z, Derfalvi B, Csorba G, Szaflarska A, Megarbane A, Akatcherian C, Dbaibo G, Rajnavolgyi E, Hammarstrom L, Kere J, Lefranc G, Marodi L (2008) Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol 46(1):202–206

    Article  PubMed  CAS  Google Scholar 

  68. Wolpert J, Knutsen AP (1998) Natural history of selective antibody deficiency to bacterial polysaccharide antigens in children. Pediatr Asthma Allergy Immunol 12:183–191

    Article  Google Scholar 

  69. 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(5):368–376

    Article  PubMed  CAS  Google Scholar 

  70. 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(1):70–74

    Article  PubMed  CAS  Google Scholar 

  71. Alapi K, Erdos M, Kovacs G, Marodi L (2007) Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. Eur J Haematol 78(1):86–88

    Article  PubMed  CAS  Google Scholar 

  72. Nagasawa T, Tachibana K, Kishimoto T (1998) A novel CXC chemokine PBSF/SDF-1 and its receptor CXCR4: their functions in development, hematopoiesis and HIV infection. Semin Immunol 10(3):179–185

    Article  PubMed  CAS  Google Scholar 

  73. Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Badolato R (2004) Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood 104(2):444–452

    Article  PubMed  CAS  Google Scholar 

  74. 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(4):460–468

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  76. 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(5):443–448

    Article  PubMed  CAS  Google Scholar 

  77. Goddard EA, Hughes EJ, Beatty DW (1994) A case of immunodeficiency characterized by neutropenia, hypogammaglobulinaemia, recurrent infections and warts. Clin Lab Haematol 16(3):297–302

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary

    Melinda Erdős M.D., Ph.D. & László Maródi M.D., Ph.D., D.Sc.

  2. Pediatric Respiratory Disease Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti Medical University, Tehran, Iran

    Seyed Alireza Mahdaviani M.D.

  3. Primary Immunodeficiency Clinic, Laboratory of Host Defenses, NIAID, National Institute of Health, Bethesda, MD, USA

    Sergio D. Rosenzweig M.D., Ph.D.

  4. Department of Pediatrics, University Hospital, Dresden, Germany

    Joachim Roesler M.D.

  5. Department of Immunology, Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran, Iran

    Nima Rezaei M.D., Ph.D.

  6. Molecular Immunology Research Center, Tehran, Iran

    Nima Rezaei M.D., Ph.D.

  7. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei M.D., Ph.D.

Authors
  1. Melinda Erdős M.D., Ph.D.
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  2. László Maródi M.D., Ph.D., D.Sc.
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  3. Seyed Alireza Mahdaviani M.D.
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  4. Sergio D. Rosenzweig M.D., Ph.D.
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  5. Joachim Roesler M.D.
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  6. Nima Rezaei M.D., Ph.D.
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Corresponding author

Correspondence to Melinda Erdős M.D., Ph.D. .

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Editors and Affiliations

  1. Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Qarib St, Keshavarz Blvd, Tehran, 14194, Iran

    Asghar Aghamohammadi

  2. Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Qarib St, Keshavarz Blvd, Tehran, 14194, Iran

    Nima Rezaei

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Erdős, M., Maródi, L., Mahdaviani, S.A., Rosenzweig, S.D., Roesler, J., Rezaei, N. (2012). Defects in Innate Immunity: Receptors and Signaling Components. In: Aghamohammadi, A., Rezaei, N. (eds) Clinical Cases in Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-31785-9_6

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