Disorders of Phagocytic Cells

  • Nima Rezaei
  • Asghar Aghamohammadi
  • Michael H. Albert
  • Bernd H. Belohradsky
  • Teresa Espanol
  • Melinda Erdős
  • Christoph Klein
  • László Maródi
  • Payam Mohammadinejad
  • Thomas Nicolai
  • Gundula Notheis
  • Mona Hedayat
  • Shabnam Pourhamdi
  • Joachim Roesler
  • Sergio D. Rosenzweig
  • Uwe Wintergerst
Chapter

Abstract

Patients with defects in phagocytic function are predisposed to intracellular microorganisms and typically have early dissemination of the infection. Recognition of the underlying disorder and aggressive antimicrobial therapy has been beneficial for the patients. Improved understanding of the pathophysiology of the disorder has also affected patient management by allowing specific, targeted immunomodulatory interventions. The cases in this chapter are not common but have had a significant impact on our understanding of the role of phagocytic cells in host defense. Conversely, understanding the role of the neutrophils and macrophages in infection has benefited not just the patients described in this chapter but also other patients with similar disease process.

Keywords

Correct Answer Chronic Granulomatous Disease Oral Ulcer Sinusoidal Obstruction Syndrome Chronic Granulomatous Disease Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM (2000) Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79(3):170–200Google Scholar
  2. 2.
    Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79(3):155–169Google Scholar
  3. 3.
    Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O’Brien S, Hilligoss DM, Malech HL, Gallin JI, Holland SM (2004) Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 114(2):462–468PubMedGoogle Scholar
  4. 4.
    Galluzzo ML, Hernandez C, Davila MT, Perez L, Oleastro M, Zelazko M, Rosenzweig SD (2008) Clinical and histopathological features and a unique spectrum of organisms significantly associated with chronic granulomatous disease osteomyelitis during childhood. Clin Infect Dis 46(5):745–749PubMedGoogle Scholar
  5. 5.
    van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Espanol T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW (2009) Chronic granulomatous disease: the European experience. PLoS One 4(4):e5234PubMedGoogle Scholar
  6. 6.
    Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, Marchal CC, Stull ND, Lewis DB, Steele M, Kellner JD, Yu W, Meroueh SO, Nauseef WM, Dinauer MC (2009) A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 114(15):3309–3315PubMedGoogle Scholar
  7. 7.
    Movahedi M, Aghamohammadi A, Rezaei N, Shahnavaz N, Jandaghi AB, Farhoudi A, Pourpak Z, Moin M, Gharagozlou M, Mansouri D (2004) Chronic granulomatous disease: a clinical survey of 41 patients from the Iranian primary immunodeficiency registry. Int Arch Allergy Immunol 134(3):253–259PubMedGoogle Scholar
  8. 8.
    Wolach B, Gavrieli R, de Boer M, Gottesman G, Ben-Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Etzioni A, Roos D (2008) Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients. Clin Immunol 129(1):103–114PubMedGoogle Scholar
  9. 9.
    Margolis DM, Melnick DA, Alling DW, Gallin JI (1990) Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 162(3):723–726PubMedGoogle Scholar
  10. 10.
    A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. The International Chronic Granulomatous Disease Cooperative Study Group (1991). N Engl J Med 324 (8):509–516Google Scholar
  11. 11.
    Gallin JI, Alling DW, Malech HL, Wesley R, Koziol D, Marciano B, Eisenstein EM, Turner ML, DeCarlo ES, Starling JM, Holland SM (2003) Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med 348(24):2416–2422PubMedGoogle Scholar
  12. 12.
    Seger RA, Gungor T, Belohradsky BH, Blanche S, Bordigoni P, Di Bartolomeo P, Flood T, Landais P, Muller S, Ozsahin H, Passwell JH, Porta F, Slavin S, Wulffraat N, Zintl F, Nagler A, Cant A, Fischer A (2002) Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985–2000. Blood 100(13):4344–4350PubMedGoogle Scholar
  13. 13.
    Martin A, Marques L, Soler-Palacin P, Caragol I, Hernandez M, Figueras C, Espanol T (2009) Visceral leishmaniasis associated hemophagocytic syndrome in patients with chronic granulomatous disease. Pediatr Infect Dis J 28(8):753–754PubMedGoogle Scholar
  14. 14.
    Wintergerst U, Rosenzweig S, Abinun M, Malech H, Holland S, Rezaei N (2008) Phagocytes defects. In: Rezaei N, Aghamohammadi A, Notarangelo L (eds) Primary immundeficiency diseases. Springer, Berlin/HeidelbergGoogle Scholar
  15. 15.
    Seger RA (2008) Modern management of chronic granulomatous disease. Br J Haematol 140(3):255–266PubMedGoogle Scholar
  16. 16.
    Bielorai B, Toren A, Wolach B, Mandel M, Golan H, Neumann Y, Kaplinisky C, Weintraub M, Keller N, Amariglio N, Paswell J, Rechavi G (2000) Successful treatment of invasive aspergillosis in chronic granulomatous disease by granulocyte transfusions followed by peripheral blood stem cell transplantation. Bone Marrow Transplant 26(9):1025–1028PubMedGoogle Scholar
  17. 17.
    Emmendorffer A, Nakamura M, Rothe G, Spiekermann K, Lohmann-Matthes ML, Roesler J (1994) Evaluation of flow cytometric methods for diagnosis of chronic granulomatous disease variants under routine laboratory conditions. Cytometry 18(3):147–155PubMedGoogle Scholar
  18. 18.
    Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT (1998) X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet 62(6):1320–1331PubMedGoogle Scholar
  19. 19.
    Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H (1996) Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87(5):1663–1681PubMedGoogle Scholar
  20. 20.
    Segal AW (2005) How neutrophils kill microbes. Annu Rev Immunol 23:197–223PubMedGoogle Scholar
  21. 21.
    Mandell GL, Hook EW (1969) Leukocyte bactericidal activity in chronic granulomatous disease: correlation of bacterial hydrogen peroxide production and susceptibility to intracellular killing. J Bacteriol 100(1):531–532PubMedGoogle Scholar
  22. 22.
    Cale CM, Jones AM, Goldblatt D (2000) Follow up of patients with chronic granulomatous disease diagnosed since 1990. Clin Exp Immunol 120(2):351–355PubMedGoogle Scholar
  23. 23.
    Vowells SJ, Fleisher TA, Sekhsaria S, Alling DW, Maguire TE, Malech HL (1996) Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J Pediatr 128(1):104–107PubMedGoogle Scholar
  24. 24.
    Hauck F, Heine S, Beier R, Wieczorek K, Muller D, Hahn G, Gahr M, Rosen-Wolff A, Roesler J (2008) Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases. J Pediatr Hematol Oncol 30(12):877–880PubMedGoogle Scholar
  25. 25.
    Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, Fleisher TA (2003) Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol 111(2):374–379PubMedGoogle Scholar
  26. 26.
    Levinsky RJ, Harvey BA, Rodeck CH, Soothill JF (1983) Phorbol myristate acetate stimulated NBT test: a simple method suitable for antenatal diagnosis of chronic granulomatous disease. Clin Exp Immunol 54(2):595–598PubMedGoogle Scholar
  27. 27.
    Roberts RL, Ank BJ, Stiehm ER (1989) Enhancement of normal neutrophil chemiluminescence by chronic granulomatous disease neutrophils. Inflammation 13(6):631–640PubMedGoogle Scholar
  28. 28.
    Kuhns DB, Alvord WG, Heller T, Feld JJ, Pike KM, Marciano BE, Uzel G, DeRavin SS, Priel DA, Soule BP, Zarember KA, Malech HL, Holland SM, Gallin JI (2010) Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med 363(27):2600–2610PubMedGoogle Scholar
  29. 29.
    Vowells SJ, Sekhsaria S, Malech HL, Shalit M, Fleisher TA (1995) Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J Immunol Methods 178(1):89–97PubMedGoogle Scholar
  30. 30.
    Banerjee R, Anguita J, Roos D, Fikrig E (2000) Cutting edge: infection by the agent of human granulocytic ehrlichiosis prevents the respiratory burst by down-regulating gp91phox. J Immunol 164(8):3946–3949PubMedGoogle Scholar
  31. 31.
    Roos D, van Zwieten R, Wijnen JT, Gomez-Gallego F, de Boer M, Stevens D, Pronk-Admiraal CJ, de Rijk T, van Noorden CJ, Weening RS, Vulliamy TJ, Ploem JE, Mason PJ, Bautista JM, Khan PM, Beutler E (1999) Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood 94(9):2955–2962PubMedGoogle Scholar
  32. 32.
    Welte K, Zeidler C, Dale DC (2006) Severe congenital neutropenia. Semin Hematol 43(3):189–195PubMedGoogle Scholar
  33. 33.
    Schaffer AA, Klein C (2007) Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 7(6):481–494PubMedGoogle Scholar
  34. 34.
    Boztug K, Klein C (2009) Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol 21(5):472–480PubMedGoogle Scholar
  35. 35.
    Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K (2007) HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 39(1):86–92PubMedGoogle Scholar
  36. 36.
    Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96(7):2317–2322PubMedGoogle Scholar
  37. 37.
    Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ (2007) Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 109(5):1817–1824PubMedGoogle Scholar
  38. 38.
    Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, Eliopoulos G, Kaufman C, Bertolone SJ, Nakamoto B, Papayannopoulou T, Grimes HL, Horwitz M (2003) Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 34(3):308–312PubMedGoogle Scholar
  39. 39.
    Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 27(3):313–317PubMedGoogle Scholar
  40. 40.
    Ancliff PJ, Blundell MP, Cory GO, Calle Y, Worth A, Kempski H, Burns S, Jones GE, Sinclair J, Kinnon C, Hann IM, Gale RE, Linch DC, Thrasher AJ (2006) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 108(7):2182–2189PubMedGoogle Scholar
  41. 41.
    Notarangelo LD, Notarangelo LD, Ochs HD (2005) WASP and the phenotypic range associated with deficiency. Curr Opin Allergy Clin Immunol 5(6):485–490PubMedGoogle Scholar
  42. 42.
    Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey S, Schwinzer B, Zeidler C, Welte K, Dale DC (2006) The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 107(12):4628–4635PubMedGoogle Scholar
  43. 43.
    Dong F, Brynes RK, Tidow N, Welte K, Lowenberg B, Touw IP (1995) Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med 333(8):487–493PubMedGoogle Scholar
  44. 44.
    Germeshausen M, Ballmaier M, Welte K (2007) Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 109(1):93–99PubMedGoogle Scholar
  45. 45.
    Liu F, Kunter G, Krem MM, Eades WC, Cain JA, Tomasson MH, Hennighausen L, Link DC (2008) Csf3r mutations in mice confer a strong clonal HSC advantage via activation of Stat5. J Clin Invest 118(3):946–955PubMedGoogle Scholar
  46. 46.
    James RM, Kinsey SE (2006) The investigation and management of chronic neutropenia in children. Arch Dis Child 91(10):852–858PubMedGoogle Scholar
  47. 47.
    Carlsson G, Wahlin YB, Johansson A, Olsson A, Eriksson T, Claesson R, Hanstrom L, Henter JI (2006) Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. J Periodontol 77(4):744–751PubMedGoogle Scholar
  48. 48.
    Ferry C, Ouachee M, Leblanc T, Michel G, Notz-Carrere A, Tabrizi R, Flood T, Lutz P, Fischer A, Gluckman E, Donadieu J (2005) Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant 35(1):45–50PubMedGoogle Scholar
  49. 49.
    Zeidler C, Welte K, Barak Y, Barriga F, Bolyard AA, Boxer L, Cornu G, Cowan MJ, Dale DC, Flood T, Freedman M, Gadner H, Mandel H, O’Reilly RJ, Ramenghi U, Reiter A, Skinner R, Vermylen C, Levine JE (2000) Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 95(4):1195–1198PubMedGoogle Scholar
  50. 50.
    Rezaei N, Chavoshzadeh Z, R Alaei O, Sandrock I, Klein C (2007) Association of HAX1 deficiency with neurological disorder. Neuropediatrics 38(5):261–263PubMedGoogle Scholar
  51. 51.
    Matsubara K, Imai K, Okada S, Miki M, Ishikawa N, Tsumura M, Kato T, Ohara O, Nonoyama S, Kobayashi M (2007) Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. Haematologica 92(12):e123–e125PubMedGoogle Scholar
  52. 52.
    Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C (2008) Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 111(10):4954–4957PubMedGoogle Scholar
  53. 53.
    Carlsson G, Van’t Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, Trebinska A, Grzybowska E, Palmblad J, Dahl N, Nordenskjold M, Fadeel B, Henter JI (2008) Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 264(4):388–400PubMedGoogle Scholar
  54. 54.
    Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M (2008) Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet 45(12):802–807PubMedGoogle Scholar
  55. 55.
    Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F, Bhuiyan JA, Abalkhail HA, Al-Nounou R, Al-Abdullatif A, Pulicat MS, Gaafar A, Alaiya AA, Peltekova I, Zaidi SH (2010) A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. Eur J Pediatr 169(6):661–666PubMedGoogle Scholar
  56. 56.
    Boztug K, Welte K, Zeidler C, Klein C (2008) Congenital neutropenia syndromes. Immunol Allergy Clin North Am 28(2):259–275PubMedGoogle Scholar
  57. 57.
    Klein C (2009) Molecular basis of congenital neutropenia. Haematologica 94(10):1333–1336PubMedGoogle Scholar
  58. 58.
    Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360(1):32–43PubMedGoogle Scholar
  59. 59.
    Svensson L, Howarth K, McDowall A, Patzak I, Evans R, Ussar S, Moser M, Metin A, Fried M, Tomlinson I, Hogg N (2009) Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. Nat Med 15(3):306–312PubMedGoogle Scholar
  60. 60.
    Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J (2009) Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 124(6):1161–1178PubMedGoogle Scholar
  61. 61.
    Le Deist F, Moshous D, Howe S, Nahum A, Kavadas F, Lavine E, Roifman C, Fischer A (2008) Combined T and B cell immunodeficiencies. In: Rezaei N, Aghamohammadi A, Notarangelo L (eds) Primary immundeficiency diseases. Springer, Berlin/HeidelbergGoogle Scholar
  62. 62.
    Patel N, Koziel H (2004) Pneumocystis jiroveci pneumonia in adult patients with AIDS: treatment strategies and emerging challenges to antimicrobial therapy. Treat Respir Med 3(6):381–397PubMedGoogle Scholar
  63. 63.
    Cheuk DK, Wang P, Lee TL, Chiang AK, Ha SY, Lau YL, Chan GC (2007) Risk factors and mortality predictors of hepatic veno-occlusive disease after pediatric hematopoietic stem cell transplantation. Bone Marrow Transplant 40(10):935–944PubMedGoogle Scholar
  64. 64.
    Ochs H, Smith C, Puck J (2007) Primary immunodeficiency diseases: a molecular and genetic approach, 2nd edn. Oxford University Press, New YorkGoogle Scholar
  65. 65.
    Velardi A, Locatelli F (2004) Hematopoietic stem cell transplantation. In: Kliegman R, Behrman R, Jenson H, Stanton B (eds) Nelson textbook of pediatrics, 18th edn. Saunders, PhiladelphiaGoogle Scholar
  66. 66.
    Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, Rommens JM, Myers JS (2009) Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. Hum Mol Genet 18(19):3684–3695PubMedGoogle Scholar
  67. 67.
    Makitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG (2004) Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet 65(2):101–112PubMedGoogle Scholar
  68. 68.
    Rujkijyanont P, Watanabe K, Ambekar C, Wang H, Schimmer A, Beyene J, Dror Y (2008) SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway. Haematologica 93(3):363–371PubMedGoogle Scholar
  69. 69.
    Watanabe K, Ambekar C, Wang H, Ciccolini A, Schimmer AD, Dror Y (2009) SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 14(1):77–89PubMedGoogle Scholar
  70. 70.
    Smith OP (2002) Shwachman-Diamond syndrome. Semin Hematol 39(2):95–102PubMedGoogle Scholar
  71. 71.
    Shimamura A (2006) Shwachman-Diamond syndrome. Semin Hematol 43(3):178–188PubMedGoogle Scholar
  72. 72.
    Mellink CH, Alders M, van der Lelie H, Hennekam RH, Kuijpers TW (2004) SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Cancer Genet Cytogenet 154(2):144–149PubMedGoogle Scholar
  73. 73.
    Minelli A, Maserati E, Nicolis E, Zecca M, Sainati L, Longoni D, Lo Curto F, Menna G, Poli F, De Paoli E, Cipolli M, Locatelli F, Pasquali F, Danesino C (2009) The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia 23(4):708–711PubMedGoogle Scholar
  74. 74.
    Dale DC, Bolyard AA, Aprikyan A (2002) Cyclic neutropenia. Semin Hematol 39(2):89–94PubMedGoogle Scholar
  75. 75.
    Dale DC, Hammond WP (1988) Cyclic neutropenia: a clinical review. Blood Rev 2(3):178–185PubMedGoogle Scholar
  76. 76.
    Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Ramyar A, Moin M, Gharagozlou M, Movahedi M, Mohammadpour B, Mirsaeid Ghazi B, Izadyar M, Mahmoudi M (2004) Clinical and laboratory findings in Iranian children with cyclic neutropenia. Iran J Allergy Asthma Immunol 3(1):37–40PubMedGoogle Scholar
  77. 77.
    Dale DC, Liles WC, Garwicz D, Aprikyan AG (2001) Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia. J Pediatr Hematol Oncol 23(4):208–210PubMedGoogle Scholar
  78. 78.
    Etzioni A (2001) Novel aspects of phagocytic cell disorders. Curr Opin Allergy Clin Immunol 1(6):535–540PubMedGoogle Scholar
  79. 79.
    Rezaei N, Farhoudi A, Ramyar A, Pourpak Z, Aghamohammadi A, Mohammadpour B, Moin M, Gharagozlou M, Movahedi M, Ghazi BM, Izadyar M, Mahmoudi M (2005) Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. J Pediatr Hematol Oncol 27(7):351–356PubMedGoogle Scholar
  80. 80.
    Aprikyan AA, Liles WC, Boxer LA, Dale DC (2002) Mutant elastase in pathogenesis of cyclic and severe congenital neutropenia. J Pediatr Hematol Oncol 24(9):784–786PubMedGoogle Scholar
  81. 81.
    Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC (1999) Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 23(4):433–436PubMedGoogle Scholar
  82. 82.
    Aprikyan AA, Liles WC, Rodger E, Jonas M, Chi EY, Dale DC (2001) Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia. Blood 97(1):147–153PubMedGoogle Scholar
  83. 83.
    Haurie C, Dale DC, Mackey MC (1998) Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models. Blood 92(8):2629–2640PubMedGoogle Scholar
  84. 84.
    Palmer SE, Stephens K, Dale DC (1996) Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am J Med Genet 66(4):413–422PubMedGoogle Scholar
  85. 85.
    Bar-Joseph G, Halberthal M, Sweed Y, Bialik V, Shoshani O, Etzioni A (1997) Clostridium septicum infection in children with cyclic neutropenia. J Pediatr 131(2):317–319PubMedGoogle Scholar
  86. 86.
    Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, Freedman MH, Donadieu J, Kannourakis G, Alter BP, Cham BP, Winkelstein J, Kinsey SE, Zeidler C, Welte K (2006) The Severe Chronic Neutropenia International Registry: 10-year follow-up report. Support Cancer Ther 3(4):220–231PubMedGoogle Scholar
  87. 87.
    Dale DC, Bolyard AA, Hammond WP (1993) Cyclic neutropenia: natural history and effects of long-term treatment with recombinant human granulocyte colony-stimulating factor. Cancer Invest 11(2):219–223PubMedGoogle Scholar
  88. 88.
    Hammond WP, Price TH, Souza LM, Dale DC (1989) Treatment of cyclic neutropenia with granulocyte colony-stimulating factor. N Engl J Med 320(20):1306–1311PubMedGoogle Scholar
  89. 89.
    Heussner P, Haase D, Kanz L, Fonatsch C, Welte K, Freund M (1995) G-CSF in the long-term treatment of cyclic neutropenia and chronic idiopathic neutropenia in adult patients. Int J Hematol 62(4):225–234PubMedGoogle Scholar
  90. 90.
    Fink-Puches R, Kainz JT, Kahr A, Urban C, Smolle J, Kerl H (1996) Granulocyte colony-stimulating factor treatment of cyclic neutropenia with recurrent oral aphthae. Arch Dermatol 132(11):1399–1400PubMedGoogle Scholar
  91. 91.
    Germeshausen M, Skokowa J, Ballmaier M, Zeidler C, Welte K (2008) G-CSF receptor mutations in patients with congenital neutropenia. Curr Opin Hematol 15(4):332–337PubMedGoogle Scholar
  92. 92.
    Skokowa J, Germeshausen M, Zeidler C, Welte K (2007) Severe congenital neutropenia: inheritance and pathophysiology. Curr Opin Hematol 14(1):22–28PubMedGoogle Scholar
  93. 93.
    Salipante SJ, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, Rezaei N, Horwitz MS (2007) Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat 28(9):874–881PubMedGoogle Scholar
  94. 94.
    Dong F, Dale DC, Bonilla MA, Freedman M, Fasth A, Neijens HJ, Palmblad J, Briars GL, Carlsson G, Veerman AJ, Welte K, Lowenberg B, Touw IP (1997) Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Leukemia 11(1):120–125PubMedGoogle Scholar
  95. 95.
    Zeidler C, Germeshausen M, Klein C, Welte K (2009) Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 144(4):459–467PubMedGoogle Scholar
  96. 96.
    Yakisan E, Schirg E, Zeidler C, Bishop NJ, Reiter A, Hirt A, Riehm H, Welte K (1997) High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann’s syndrome). J Pediatr 131(4):592–597PubMedGoogle Scholar
  97. 97.
    Levine DH, Madyastha PR (1986) Isoimmune neonatal neutropenia. Am J Perinatol 3(3):231–233PubMedGoogle Scholar
  98. 98.
    Sieff CA, Nisbet-Brown E, Nathan DG (2000) Congenital bone marrow failure syndromes. Br J Haematol 111(1):30–42PubMedGoogle Scholar
  99. 99.
    Boxer LA, Newburger PE (2007) A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer 49(5):609–614PubMedGoogle Scholar
  100. 100.
    Bouma G, Ancliff PJ, Thrasher AJ, Burns SO (2010) Recent advances in the understanding of genetic defects of neutrophil number and function. Br J Haematol 151(4):312–326PubMedGoogle Scholar
  101. 101.
    Welte K, Boxer LA (1997) Severe chronic neutropenia: pathophysiology and therapy. Semin Hematol 34(4):267–278PubMedGoogle Scholar
  102. 102.
    Amato D, Freedman MH, Saunders EF (1976) Granulopoiesis in severe congenital neutropenia. Blood 47(4):531–538PubMedGoogle Scholar
  103. 103.
    Zeidler C, Schwinzer B, Welte K (2003) Congenital neutropenias. Rev Clin Exp Hematol 7(1):72–83PubMedGoogle Scholar
  104. 104.
    Zeidler C, Welte K (2002) Kostmann syndrome and severe congenital neutropenia. Semin Hematol 39(2):82–88PubMedGoogle Scholar
  105. 105.
    Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Sherkat R, Aghamohammadi A, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A (2007) The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol 27(5):525–533PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Nima Rezaei
    • 1
    • 2
    • 3
  • Asghar Aghamohammadi
    • 4
  • Michael H. Albert
    • 5
  • Bernd H. Belohradsky
    • 6
  • Teresa Espanol
    • 7
  • Melinda Erdős
    • 8
  • Christoph Klein
    • 9
  • László Maródi
    • 8
  • Payam Mohammadinejad
    • 10
  • Thomas Nicolai
    • 6
  • Gundula Notheis
    • 11
  • Mona Hedayat
    • 15
  • Shabnam Pourhamdi
    • 10
  • Joachim Roesler
    • 12
  • Sergio D. Rosenzweig
    • 13
  • Uwe Wintergerst
    • 14
  1. 1.Department of ImmunologyResearch Center for Immunodeficiencies, Children’s Medical Center HospitalTehranIran
  2. 2.Molecular Immunology Research CenterTehranIran
  3. 3.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran
  4. 4.Division of Clinical Immunology and AllergyResearch Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical SciencesTehranIran
  5. 5.Department of Pediatric Hematology/Oncology, Bone Marrow Transplant UnitUniversity Children’s Hospital, Ludwig Maximilans UniversityMunichGermany
  6. 6.Department of Pediatric Hematology/OncologyUniversity Children’s Hospital, Ludwig Maximilans UniversityMunichGermany
  7. 7.Department of Immunology and Immunodeficiencies, School of MedicineUniversity Hospital Vall d’HebronBarcelonaSpain
  8. 8.Department of Infectious and Pediatric ImmunologyMedical and Health Science Center, University of DebrecenDebrecenHungary
  9. 9.Department of Pediatric Hematology, OncologyDr. von Haunersches Kinderspital, University Children’s HospitalMunichGermany
  10. 10.Department of PediatricsResearch Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical SciencesTehranIran
  11. 11.Primary Immunodeficiency ClinicUniversity Children’s Hospital, Ludwig Maximilans UniversityMunichGermany
  12. 12.Department of PediatricsUniversity HospitalDresdenGermany
  13. 13.Primary Immunodeficiency Clinic, Laboratory of Host DefensesNIAID, National Institute of HealthBethesdaUSA
  14. 14.Department of Infectious Diseases and ImmunologyHospital St. JosefBraunauAustria
  15. 15.Division of ImmunologyBoston Children’s HospitalMAUSA

Personalised recommendations