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Phagocytes Defects

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Primary Immunodeficiency Diseases

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References

  1. The International Chronic Granulomatous Disease Cooperative Study Group (1991). A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med 324:509–516

    Google Scholar 

  2. Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT (1980) Shwachman’s syndrome. A review of 21 cases. Arch Dis Child 55:331–347

    Article  PubMed  CAS  Google Scholar 

  3. Alon R, Aker M, Feigelson S, Sokolovsky-Eisenberg M, Staunton DE, Cinamon G, Grabovsky V, Shamri R, Etzioni A (2003) A novel genetic leukocyte adhesion deficiency in subsecond triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flow. Blood 101:4437–4445

    Article  PubMed  CAS  Google Scholar 

  4. Alsultan A, Williams MS, Lubner S, Goldman FD (2006) Chronic granulomatous disease presenting with disseminated intracranial aspergillosis. Pediatr Blood Cancer 47:107–110

    Article  PubMed  Google Scholar 

  5. Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D (2000) Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci USA 97:4654–4659

    Article  PubMed  CAS  Google Scholar 

  6. Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC (2001) Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 98:2645–2650

    Article  PubMed  CAS  Google Scholar 

  7. Appelbaum FR (2007) Hematopoietic cell transplantation at 50. N Engl J Med 357:1472–1475

    Article  PubMed  CAS  Google Scholar 

  8. Aprikyan AA, Liles WC, Boxer LA, Dale DC (2002) Mutant elastase in pathogenesis of cyclic and severe congenital neutropenia. J Pediatr Hematol Oncol 24:784–786

    Article  PubMed  Google Scholar 

  9. Ariga T, Furuta H, Cho K, Sakiyama Y (1998) Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers. Pediatr Res 44:85–92

    Article  PubMed  CAS  Google Scholar 

  10. Babior BM (1999) NADPH oxidase: an update. Blood 93:1464–1476

    PubMed  CAS  Google Scholar 

  11. Baehner RL, Johnston RB, Jr., Nathan DG (1972) Comparative study of the metabolic and bactericidal characteristics of severely glucose-6-phosphate dehydrogenase-deficient polymorphonuclear leukocytes and leukocytes from children with chronic granulomatous disease. J Reticuloendothel Soc 12:150–169

    PubMed  CAS  Google Scholar 

  12. 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 164:3946–3949

    PubMed  CAS  Google Scholar 

  13. Bauer TR, Jr., Allen JM, Hai M, Tuschong LM, Khan IF, Olson EM, Adler RL, Burkholder TH, Gu YC, Russell DW, Hickstein DD (2008) Successful treatment of canine leukocyte adhesion deficiency by foamy virus vectors. Nat Med 14:93–97

    Article  PubMed  CAS  Google Scholar 

  14. Bauer TR, Jr., Gu YC, Tuschong LM, Burkholder T, Bacher JD, Starost MF, Donahue RE, Sokolic RA, Hickstein DD (2005) Nonmyeloablative hematopoietic stem cell transplantation corrects the disease phenotype in the canine model of leukocyte adhesion deficiency. Exp Hematol 33:706–712

    Article  PubMed  CAS  Google Scholar 

  15. Bauer TR, Jr., Hai M, Tuschong LM, Burkholder TH, Gu YC, Sokolic RA, Ferguson C, Dunbar CE, Hickstein DD (2006) Correction of the disease phenotype in canine leukocyte adhesion deficiency using ex vivo hematopoietic stem cell gene therapy. Blood 108:3313–3320

    Article  PubMed  CAS  Google Scholar 

  16. Bauer TR, Jr., Hickstein DD (2000) Gene therapy for leukocyte adhesion deficiency. Curr Opin Mol Ther 2:383–388

    PubMed  CAS  Google Scholar 

  17. Bergmeier W, Goerge T, Wang HW, Crittenden JR, Baldwin AC, Cifuni SM, Housman DE, Graybiel AM, Wagner DD (2007) Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. J Clin Invest 117:1699–1707

    Article  PubMed  CAS  Google Scholar 

  18. Berliner N, Horwitz M, Loughran TP, Jr. (2004) Congenital and acquired neutropenia. Hematology Am Soc Hematol Educ Program:63–79

    Google Scholar 

  19. Bester AC, Schwartz M, Schmidt M, Garrigue A, Hacein-Bey-Abina S, Cavazzana-Calvo M, Ben-Porat N, Von Kalle C, Fischer A, Kerem B (2006) Fragile sites are preferential targets for integrations of MLV vectors in gene therapy. Gene Ther 13:1057–1059

    Article  PubMed  CAS  Google Scholar 

  20. Beutler E (1984) Red cell metabolism: a manual of biochemical methods, 3rd edn. Grune and Stratton, New York

    Google Scholar 

  21. Beutler E, Mitchell M (1968) Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood 32:816–818

    PubMed  CAS  Google Scholar 

  22. Beutler E, Vulliamy T, Luzzatto L (1996) Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 22:49–56

    Article  PubMed  CAS  Google Scholar 

  23. 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 26:1025–1028

    Article  PubMed  CAS  Google Scholar 

  24. Bodian M, Sheldon W, Lightwood R (1964) Congenital hypoplasia of the exocrine pancreas. Acta Paediatr 53:282–293

    Article  PubMed  CAS  Google Scholar 

  25. Bohn G, Welte K, Klein C (2007) Severe congenital neutropenia: new genes explain an old disease. Curr Opin Rheumatol 19:644–650

    Article  PubMed  Google Scholar 

  26. Bonilla MA, Gillio AP, Ruggeiro M, Kernan NA, Brochstein JA, Abboud M, Fumagalli L, Vincent M, Gabrilove JL, Welte K, et al. (1989) Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 320:1574–1580

    PubMed  CAS  Google Scholar 

  27. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM (2003) Mutations in SBDS are associated with Shwachman–Diamond syndrome. Nat Genet 33:97–101

    Article  PubMed  CAS  Google Scholar 

  28. Bowen TJ, Ochs HD, Altman LC, Price TH, Van Epps DE, Brautigan DL, Rosin RE, Perkins WD, Babior BM, Klebanoff SJ, Wedgwood RJ (1982) Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein. J Pediatr 101:932–940

    Article  PubMed  CAS  Google Scholar 

  29. Brandrup F, Koch C, Petri M, Schiodt M, Johansen KS (1981) Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease. Br J Dermatol 104:495–505

    Article  PubMed  CAS  Google Scholar 

  30. Brennan ML, Anderson MM, Shih DM, Qu XD, Wang X, Mehta AC, Lim LL, Shi W, Hazen SL, Jacob JS, Crowley JR, Heinecke JW, Lusis AJ (2001) Increased atherosclerosis in myeloperoxidase-deficient mice. J Clin Invest 107:419–430

    Article  PubMed  CAS  Google Scholar 

  31. Bridges RA, Berendes H, Good RA (1959) A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome. AMA J Dis Child 97:387–408

    PubMed  CAS  Google Scholar 

  32. Bustamante J, Aksu G, Vogt G, de Beaucoudrey L, Genel F, Chapgier A, Filipe-Santos O, Feinberg J, Emile JF, Kutukculer N, Casanova JL (2007) BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol 120:32–38

    Article  PubMed  Google Scholar 

  33. Cale CM, Jones AM, Goldblatt D (2000) Follow up of patients with chronic granulomatous disease diagnosed since 1990. Clin Exp Immunol 120:351–355

    Article  PubMed  CAS  Google Scholar 

  34. Cale CM, Morton L, Goldblatt D (2007) Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 148:79–84

    PubMed  CAS  Google Scholar 

  35. Carlsson G, Andersson M, Putsep K, Garwicz D, Nordenskjold M, Henter JI, Palmblad J, Fadeel B (2006) Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia. Acta Paediatr 95:1526–1532

    Article  PubMed  Google Scholar 

  36. Carlsson G, Fasth A (2001) Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original “Kostmann family” and a review. Acta Paediatr 90:757–764

    Article  PubMed  CAS  Google Scholar 

  37. Carlsson G, Melin M, Dahl N, Ramme KG, Nordenskjold M, Palmblad J, Henter JI, Fadeel B (2007) Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr 96:813–819

    Article  PubMed  Google Scholar 

  38. Casanova JL, Abel L (2007) Primary immunodeficiencies: a field in its infancy. Science 317:617–619

    Article  PubMed  CAS  Google Scholar 

  39. Cech P, Stalder H, Widmann JJ, Rohner A, Miescher PA (1979) Leukocyte myeloperoxidase deficiency and diabetes mellitus associated with Candida albicans liver abscess. Am J Med 66:149–153

    Article  PubMed  CAS  Google Scholar 

  40. Cesaro S, Oneto R, Messina C, Gibson BE, Buzyn A, Steward C, Gluckman E, Bredius R, Boogaerts M, Vermylen C, Veys P, Marsh J, Badell I, Michel G, Gungor T, Niethammer D, Bordigoni P, Oswald C, Favre C, Passweg J, Dini G (2005) Haematopoietic stem cell transplantation for Shwachman–Diamond disease: a study from the European Group for blood and marrow transplantation. Br J Haematol 131:231–236

    Article  PubMed  Google Scholar 

  41. Chin TW, Stiehm ER, Falloon J, Gallin JI (1987) Corticosteroids in treatment of obstructive lesions of chronic granulomatous disease. J Pediatr 111:349–352

    Article  PubMed  CAS  Google Scholar 

  42. Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Cretien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE (2007) Impaired ribosome biogenesis in Diamond–Blackfan anemia. Blood 109:1275–1283

    Article  PubMed  CAS  Google Scholar 

  43. Cilenti L, Soundarapandian MM, Kyriazis GA, Stratico V, Singh S, Gupta S, Bonventre JV, Alnemri ES, Zervos AS (2004) Regulation of HAX-1 anti-apoptotic protein by Omi/HtrA2 protease during cell death. J Biol Chem 279:50295–50301

    Article  PubMed  CAS  Google Scholar 

  44. Cooper MR, DeChatelet LR, McCall CE, LaVia MF, Spurr CL, Baehner RL (1972) Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity. J Clin Invest 51:769–778

    Article  PubMed  CAS  Google Scholar 

  45. Dale DC, Bolyard AA, Aprikyan A (2002) Cyclic neutropenia. Semin Hematol 39:89–94

    Article  PubMed  CAS  Google Scholar 

  46. 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: 219–223

    Article  PubMed  CAS  Google Scholar 

  47. Dale DC, Hammond WPt (1988) Cyclic neutropenia: a clinical review. Blood Rev 2:178–185

    Article  PubMed  CAS  Google Scholar 

  48. 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 23:208–210

    Article  PubMed  CAS  Google Scholar 

  49. 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 96:2317–2322

    PubMed  CAS  Google Scholar 

  50. 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 27:313–317

    Article  PubMed  CAS  Google Scholar 

  51. Dinauer MC, Li LL, Bjorgvinsdottir H, Ding C, Pech N (1999) Long-term correction of phagocyte NADPH oxidase activity by retroviral-mediated gene transfer in murine X-linked chronic granulomatous disease. Blood 94:914–922

    PubMed  CAS  Google Scholar 

  52. 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 333:487–493

    Article  PubMed  CAS  Google Scholar 

  53. Dorman SE, Guide SV, Conville PS, DeCarlo ES, Malech HL, Gallin JI, Witebsky FG, Holland SM (2002) Nocardia infection in chronic granulomatous disease. Clin Infect Dis 35:390–394

    Article  PubMed  Google Scholar 

  54. Dror Y, Freedman MH (1999) Shwachman–Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood 94:3048–3054

    PubMed  CAS  Google Scholar 

  55. Dror Y, Freedman MH (2001) Shwachman–Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood 97:3011–3016

    Article  PubMed  CAS  Google Scholar 

  56. Dror Y, Freedman MH (2002) Shwachman–diamond syndrome. Br J Haematol 118:701–713

    Article  PubMed  Google Scholar 

  57. Dror Y, Ginzberg H, Dalal I, Cherepanov V, Downey G, Durie P, Roifman CM, Freedman MH (2001) Immune function in patients with Shwachman–Diamond syndrome. Br J Haematol 114:712–717

    Article  PubMed  CAS  Google Scholar 

  58. ESID (2006) ESID/PAGID Diagnostic criteria for isolated Severe Congenital Neutropenia (SCN), Accessed at: www.esid.org

  59. Etzioni A (2001) Novel aspects of phagocytic cell disorders. Curr Opin Allergy Clin Immunol 1:535–540

    Article  PubMed  CAS  Google Scholar 

  60. Etzioni A, Alon R (2004) Leukocyte adhesion deficiency III: a group of integrin activation defects in hematopoietic lineage cells. Curr Opin Allergy Clin Immunol 4:485–490

    Article  PubMed  CAS  Google Scholar 

  61. Etzioni A, Harlan JM, Pollack S, Phillips LM, Gershoni-Baruch R, Paulson JC (1993) Leukocyte adhesion deficiency (LAD) II: a new adhesion defect due to absence of sialyl Lewis X, the ligand for selectins. Immunodeficiency 4:307–308

    PubMed  CAS  Google Scholar 

  62. Etzioni A, Tonetti M (2000) Fucose supplementation in leukocyte adhesion deficiency type II. Blood 95: 3641–3643

    PubMed  CAS  Google Scholar 

  63. Etzioni A, Tonetti M (2000) Leukocyte adhesion deficiency II-from A to almost Z. Immunol Rev 178: 138–147

    Article  PubMed  CAS  Google Scholar 

  64. F. B (1993) Periodontal disease. In: Regezi J SJ (eds) Oral pathology. Saunders, New York, pp 553–557

    Google Scholar 

  65. Fischer A, Landais P, Friedrich W, Gerritsen B, Fasth A, Porta F, Vellodi A, Benkerrou M, Jais JP, Cavazzana-Calvo M, et al. (1994) Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency. Blood 83:1149–1154

    PubMed  CAS  Google Scholar 

  66. Frey D, Machler M, Seger R, Schmid W, Orkin SH (1988) Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. Blood 71:252–255

    PubMed  CAS  Google Scholar 

  67. Frydman M, Etzioni A, Eidlitz-Markus T, Avidor I, Varsano I, Shechter Y, Orlin JB, Gershoni-Baruch R (1992) Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am J Med Genet 44:297–302

    Article  PubMed  CAS  Google Scholar 

  68. 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 348:2416–2422

    Article  PubMed  CAS  Google Scholar 

  69. Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A (2007) The human Shwachman–Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood 110:1458–1465

    Article  PubMed  CAS  Google Scholar 

  70. Geha RS, Notarangelo L, Casanova JL, Chapel H, Fischer A, Hammarstrom L, Nonoyama S, Ochs H, Puck J, Roifman C, Seger R, Wedgwood J (2007) Primary immunodeficiency diseases: an update the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776–794

    Article  PubMed  Google Scholar 

  71. Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR (1999) Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 135:81–88

    Article  PubMed  CAS  Google Scholar 

  72. Goldblatt D, Butcher J, Thrasher AJ, Russell-Eggitt I (1999) Chorioretinal lesions in patients and carriers of chronic granulomatous disease. J Pediatr 134:780–783

    Article  PubMed  CAS  Google Scholar 

  73. Gombart AF, Koeffler HP (2002) Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). Curr Opin Hematol 9:36–42

    Article  PubMed  Google Scholar 

  74. Gray GR, Stamatoyannopoulos G, Naiman SC, Kliman MR, Klebanoff SJ, Austin T, Yoshida A, Robinson GC (1973) Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase. Lancet 2:530–534

    Article  PubMed  CAS  Google Scholar 

  75. Greenberg DE, Ding L, Zelazny AM, Stock F, Wong A, Anderson VL, Miller G, Kleiner DE, Tenorio AR, Brinster L, Dorward DW, Murray PR, Holland SM (2006) A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease. PLoS Pathog 2:e28

    Article  PubMed  CAS  Google Scholar 

  76. Grisendi S, Mecucci C, Falini B, Pandolfi PP (2006) Nucleophosmin and cancer. Nat Rev Cancer 6:493–505

    Article  PubMed  CAS  Google Scholar 

  77. Gungor T, Halter J, Klink A, Junge S, Stumpe KD, Seger R, Schanz U (2005) Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients. Transplantation 79:1596–1606

    Article  PubMed  Google Scholar 

  78. Gwinn MR, Sharma A, De Nardin E (1999) Single nucleotide polymorphisms of the N-formyl peptide receptor in localized juvenile periodontitis. J Periodontol 70:1194–1201

    Article  PubMed  CAS  Google Scholar 

  79. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, McCormack MP, Wulffraat N, Leboulch P, Lim A, Osborne CS, Pawliuk R, Morillon E, Sorensen R, Forster A, Fraser P, Cohen JI, de Saint Basile G, Alexander I, Wintergerst U, Frebourg T, Aurias A, Stoppa-Lyonnet D, Romana S, Radford-Weiss I, Gross F, Valensi F, Delabesse E, Macintyre E, Sigaux F, Soulier J, Leiva LE, Wissler M, Prinz C, Rabbitts TH, Le Deist F, Fischer A, Cavazzana-Calvo M (2003) LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302:415–419

    Article  PubMed  CAS  Google Scholar 

  80. Hasui M (1999) Chronic granulomatous disease in Japan: incidence and natural history. The Study Group of Phagocyte Disorders of Japan. Pediatr Int 41:589–593

    Article  PubMed  CAS  Google Scholar 

  81. Hayward AR, Harvey BA, Leonard J, Greenwood MC, Wood CB, Soothill JF (1979) Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility. Lancet 1:1099–1101

    Article  PubMed  CAS  Google Scholar 

  82. Helmus Y, Denecke J, Yakubenia S, Robinson P, Luhn K, Watson DL, McGrogan PJ, Vestweber D, Marquardt T, Wild MK (2006) Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter. Blood 107:3959–3966

    Article  PubMed  CAS  Google Scholar 

  83. Horwitz ME, Barrett AJ, Brown MR, Carter CS, Childs R, Gallin JI, Holland SM, Linton GF, Miller JA, Leitman SF, Read EJ, Malech HL (2001) Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T cell-depleted hematopoietic allograft. N Engl J Med 344:881–888

    Article  PubMed  CAS  Google Scholar 

  84. Hussain N, Feld JJ, Kleiner DE, Hoofnagle JH, Garcia-Eulate R, Ahlawat S, Koziel DE, Anderson V, Hilligoss D, Choyke P, Gallin JI, Liang TJ, Malech HL, Holland SM, Heller T (2007) Hepatic abnormalities in patients with chronic granulomatous disease. Hepatology 45:675–683

    Article  PubMed  Google Scholar 

  85. Ikinciogullari A, Dogu F, Solaz N, Reisli I, Kemahli S, Cin S, Babacan E (2005) Granulocyte transfusions in children with chronic granulomatous disease and invasive aspergillosis. Ther Apher Dial 9:137–141

    Article  PubMed  Google Scholar 

  86. Janeway CA, Craig J, Davison M, Doroney W, Gitlin D, Sullivan JC (1954) Hypergammaglobulinemia associated with severe, recurrent, and chronic non-specific infection. Am J Dis Child 88:388–392

    Google Scholar 

  87. Kent A, Murphy GH, Milla P (1990) Psychological characteristics of children with Shwachman syndrome. Arch Dis Child 65:1349–1352

    Article  PubMed  CAS  Google Scholar 

  88. Kinashi T, Aker M, Sokolovsky-Eisenberg M, Grabovsky V, Tanaka C, Shamri R, Feigelson S, Etzioni A, Alon R (2004) LAD-III, a leukocyte adhesion deficiency syndrome associated with defective Rap1 activation and impaired stabilization of integrin bonds. Blood 103:1033–1036

    Article  PubMed  CAS  Google Scholar 

  89. 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: 86–92

    Article  PubMed  CAS  Google Scholar 

  90. Kobayashi Y, Amano D, Ueda K, Kagosaki Y, Usui T (1978) Treatment of seven cases of chronic granulomatous disease with sulfamethoxazole-trimethoprim (SMX-TMP). Eur J Pediatr 127:247–254

    Article  PubMed  CAS  Google Scholar 

  91. Kostman R (1956) Infantile genetic agranulocytosis: a new recessive lethal disease in man. Acta Paediatr Scand 45:1–78

    Article  Google Scholar 

  92. Kostman R (1975) Infantile genetic agranulocytosis. A review with presentation of ten new cases. Acta Paediatr Scand 64:362–368

    Article  PubMed  CAS  Google Scholar 

  93. Kragballe K, Borregaard N, Brandrup F, Koch C, Staehrjohansen K (1981) Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease. Clin Exp Immunol 43:390–398

    PubMed  CAS  Google Scholar 

  94. Kressin S, Herforth A, Preis S, Wahn V, Lenard HG (1995) Papillon-Lefevre syndrome–successful treatment with a combination of retinoid and concurrent systematic periodontal therapy: case reports. Quintessence Int 26:795–803

    PubMed  CAS  Google Scholar 

  95. Kurkchubasche AG, Panepinto JA, Tracy TF, Jr., Thurman GW, Ambruso DR (2001) Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease. J Pediatr 139:141–147

    Article  PubMed  CAS  Google Scholar 

  96. Lau YL, Chan GC, Ha SY, Hui YF, Yuen KY (1998) The role of phagocytic respiratory burst in host defense against Mycobacterium tuberculosis. Clin Infect Dis 26:226–227

    Article  PubMed  CAS  Google Scholar 

  97. Leale M (1910) Recurrent frunculosis in infant showing unusual blood picture. JAMA 54:1845–1855

    Google Scholar 

  98. Lehrer RI, Cline MJ (1969) Leukocyte myeloperoxidase deficiency and disseminated candidiasis: the role of myeloperoxidase in resistance to Candida infection. J Clin Invest 48:1478–1488

    Article  PubMed  CAS  Google Scholar 

  99. Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI (1999) Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. J Exp Med 189:1847–1852

    Article  PubMed  CAS  Google Scholar 

  100. Liese J, Kloos S, Jendrossek V, Petropoulou T, Wintergerst U, Notheis G, Gahr M, Belohradsky BH (2000) Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. J Pediatr 137:687–693

    Article  PubMed  CAS  Google Scholar 

  101. Lorusso F, Kong D, Jalil AK, Sylvestre C, Tan SL, Ao A (2006) Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I. Fertil Steril 85:494 e415–498

    Article  PubMed  Google Scholar 

  102. Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C (2001) Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 28:73–76

    Article  PubMed  CAS  Google Scholar 

  103. Lubke T, Marquardt T, von Figura K, Korner C (1999) A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi. J Biol Chem 274:25986–25989

    Article  PubMed  CAS  Google Scholar 

  104. Lublin M, Bartlett DL, Danforth DN, Kauffman H, Gallin JI, Malech HL, Shawker T, Choyke P, Kleiner DE, Schwartzentruber DJ, Chang R, DeCarlo ES, Holland SM (2002) Hepatic abscess in patients with chronic granulomatous disease. Ann Surg 235:383–391

    Article  PubMed  Google Scholar 

  105. Luhn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D (2001) The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet 28:69–72

    Article  PubMed  CAS  Google Scholar 

  106. 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 65:101–112

    Article  PubMed  CAS  Google Scholar 

  107. Malech HL, Hickstein DD (2007) Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency. Curr Opin Hematol 14:29–36

    Article  PubMed  Google Scholar 

  108. Malech HL, Maples PB, Whiting-Theobald N, Linton GF, Sekhsaria S, Vowells SJ, Li F, Miller JA, DeCarlo E, Holland SM, Leitman SF, Carter CS, Butz RE, Read EJ, Fleisher TA, Schneiderman RD, Van Epps DE, Spratt SK, Maack CA, Rokovich JA, Cohen LK, Gallin JI (1997) Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc Natl Acad Sci U S A 94:12133–12138

    Article  PubMed  CAS  Google Scholar 

  109. Manzi S, Urbach AH, McCune AB, Altman HA, Kaplan SS, Medsger TA, Jr., Ramsey-Goldman R (1991) Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. Arthritis Rheum 34:101–105

    Article  PubMed  CAS  Google Scholar 

  110. 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 114:462–468

    Article  PubMed  Google Scholar 

  111. Marciano BE, Wesley R, De Carlo ES, Anderson VL, Barnhart LA, Darnell D, Malech HL, Gallin JI, Holland SM (2004) Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin Infect Dis 39:692–699

    Article  PubMed  CAS  Google Scholar 

  112. Margolis DM, Melnick DA, Alling DW, Gallin JI (1990) Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 162:723–726

    PubMed  CAS  Google Scholar 

  113. Marodi L, Notarangelo LD (2007) Education and worldwide collaboration pays off. Nat Immunol 8:323–324

    Article  PubMed  CAS  Google Scholar 

  114. Marquardt T, Luhn K, Srikrishna G, Freeze HH, Harms E, Vestweber D (1999) Correction of leukocyte adhesion deficiency type II with oral fucose. Blood 94:3976–3985

    PubMed  CAS  Google Scholar 

  115. Marsh WL, Oyen R, Nichols ME, Allen FH, Jr. (1975) Chronic granulomatous disease and the Kell blood groups. Br J Haematol 29:247–262

    Article  PubMed  CAS  Google Scholar 

  116. McCarthy KL, Playford EG, Looke DF, Whitby M (2007) Severe photosensitivity causing multifocal squamous cell carcinomas secondary to prolonged voriconazole therapy. Clin Infect Dis 44:e55–56

    Article  PubMed  CAS  Google Scholar 

  117. Meuwese MC, Trip MD, van Wissen S, van Miert JN, Kastelein JJ, Stroes ES (2008) Myeloperoxidase levels are not associated with carotid atherosclerosis progression in patients with familial hypercholesterolemia. Atherosclerosis 197:916–921

    Article  PubMed  CAS  Google Scholar 

  118. Mochizuki Y, He J, Kulkarni S, Bessler M, Mason PJ (2004) Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc Natl Acad Sci U S A 101:10756–10761

    Article  PubMed  CAS  Google Scholar 

  119. Mouy R, Veber F, Blanche S, Donadieu J, Brauner R, Levron JC, Griscelli C, Fischer A (1994) Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr 125:998–1003

    Article  PubMed  CAS  Google Scholar 

  120. 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 134:253–259

    Article  PubMed  Google Scholar 

  121. Narita M, Shibata M, Togashi T, Tomizawa K, Matsumoto S (1991) Steroid therapy for bronchopneumonia in chronic granulomatous disease. Acta Paediatr Jpn 33:181–185

    PubMed  CAS  Google Scholar 

  122. Nauseef WM (1988) Myeloperoxidase deficiency. Hematol Oncol Clin North Am 2:135–158

    PubMed  CAS  Google Scholar 

  123. Nauseef WM (2001) Contributions of myeloperoxidase to proinflammatory events: more than an antimicrobial system. Int J Hematol 74:125–133

    Article  PubMed  CAS  Google Scholar 

  124. Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS (2006) Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol 117:883–896

    Article  PubMed  Google Scholar 

  125. Nunoi H, Yamazaki T, Kanegasaki S (2001) Neutrophil cytoskeletal disease. Int J Hematol 74:119–124

    Article  PubMed  CAS  Google Scholar 

  126. Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, Kanegasaki S (1999) A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Proc Natl Acad Sci USA 96:8693–8698

    Article  PubMed  CAS  Google Scholar 

  127. Ochs HD, Smith CIE, Puck JM (2006) Primary immunodeficiency diseases. A molecular and genetic approach. 2nd edn. Oxford University Press, New York

    Google Scholar 

  128. OMIM (2008) Online Mendelian Inheritance in Man, Accessed at: http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM

  129. Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, Glimm H, Kuhlcke K, Schilz A, Kunkel H, Naundorf S, Brinkmann A, Deichmann A, Fischer M, Ball C, Pilz I, Dunbar C, Du Y, Jenkins NA, Copeland NG, Luthi U, Hassan M, Thrasher AJ, Hoelzer D, von Kalle C, Seger R, Grez M (2006) Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 12:401–409

    Article  PubMed  CAS  Google Scholar 

  130. Ott MG, Seger R, Stein S, Siler U, Hoelzer D, Grez M (2007) Advances in the treatment of chronic granulomatous disease by gene therapy. Curr Gene Ther 7:155–161

    Article  PubMed  CAS  Google Scholar 

  131. Ozsahin H, von Planta M, Muller I, Steinert HC, Nadal D, Lauener R, Tuchschmid P, Willi UV, Ozsahin M, Crompton NE, Seger RA (1998) Successful treatment of invasive aspergillosis in chronic granulomatous disease by bone marrow transplantation, granulocyte colony-stimulating factor-mobilized granulocytes, and liposomal amphotericin-B. Blood 92:2719–2724

    PubMed  CAS  Google Scholar 

  132. Pang Q, Christianson TA, Koretsky T, Carlson H, David L, Keeble W, Faulkner GR, Speckhart A, Bagby GC (2003) Nucleophosmin interacts with and inhibits the catalytic function of eukaryotic initiation factor 2 kinase PKR. J Biol Chem 278:41709–41717

    Article  PubMed  CAS  Google Scholar 

  133. Parry MF, Root RK, Metcalf JA, Delaney KK, Kaplow LS, Richar WJ (1981) Myeloperoxidase deficiency: prevalence and clinical significance. Ann Intern Med 95:293–301

    PubMed  CAS  Google Scholar 

  134. Pasic S, Minic A, Minic P, Veljkovic D, Lilic D, Slavkovic B, Pejnovic N, Abinun M (2003) Long-term follow-up and prognosis of chronic granulomatous disease in Yugoslavia: is there a role for early bone marrow transplantation? J Clin Immunol 23:55–61

    Article  PubMed  CAS  Google Scholar 

  135. Pattison DI, Davies MJ (2006) Reactions of myeloperoxidase-derived oxidants with biological substrates: gaining chemical insight into human inflammatory diseases. Curr Med Chem 13:3271–3290

    Article  PubMed  CAS  Google Scholar 

  136. Perez HD, Kelly E, Elfman F, Armitage G, Winkler J (1991) Defective polymorphonuclear leukocyte formyl peptide receptor(s) in juvenile periodontitis. J Clin Invest 87:971–976

    Article  PubMed  CAS  Google Scholar 

  137. 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 34:308–312

    Article  PubMed  CAS  Google Scholar 

  138. Petropoulou T, Liese J, Tintelnot K, Gahr M, Belohradsky BH (1994) Long-term treatment of patients with itraconazole for the prevention of Aspergillus infections in patients with chronic granulomatous disease (CGD). Mycoses 37 Suppl 2:64–69

    Article  PubMed  Google Scholar 

  139. Philippart AI, Colodny AH, Baehner RL (1972) Continuous antibiotic therapy in chronic granulomatous disease: preliminary communication. Pediatrics 50:923–925

    PubMed  CAS  Google Scholar 

  140. Qasim W, Gaspar HB, Thrasher AJ (2007) Update on clinical gene therapy in childhood. Arch Dis Child 92:1028–1031

    Article  PubMed  Google Scholar 

  141. Quie PG, Belani KK (1987) Corticosteroids for chronic granulomatous disease. J Pediatr 111:393–394

    Article  PubMed  CAS  Google Scholar 

  142. 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 62:1320–1331

    Article  PubMed  CAS  Google Scholar 

  143. Rao K, Amrolia PJ, Jones A, Cale CM, Naik P, King D, Davies GE, Gaspar HB, Veys PA (2005) Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Blood 105:879–885

    Article  PubMed  CAS  Google Scholar 

  144. Reeves EP, Lu H, Jacobs HL, Messina CG, Bolsover S, Gabella G, Potma EO, Warley A, Roes J, Segal AW (2002) Killing activity of neutrophils is mediated through activation of proteases by K+ flux. Nature 416:291–297

    Article  PubMed  CAS  Google Scholar 

  145. Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, Atarod L, Ghazi BM, Isaeian A, Mahmoudi M, Abolmaali K, Mansouri D, Arshi S, Tarash NJ, Sherkat R, Akbari H, Amin R, Alborzi A, Kashef S, Farid R, Mohammadzadeh I, Shabestari MS, Nabavi M, Farhoudi A (2006) Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol 26:519–532

    Article  PubMed  Google Scholar 

  146. Rezaei N, Chavoshzadeh Z, Alaei OR, Sandrock I, Klein C (2007) Association of HAX1 deficiency with neurological disorder. Neuropediatrics 38:261–263

    Article  PubMed  CAS  Google Scholar 

  147. Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Movahedi M, Gharagozlou M (2005) Neutropenia in Iranian patients with primary immunodeficiency disorders. Haematologica 90:554–556

    PubMed  Google Scholar 

  148. 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 3:37–40

    PubMed  Google Scholar 

  149. 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 27:351–356

    Article  PubMed  Google Scholar 

  150. 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 27:525–533

    Article  PubMed  Google Scholar 

  151. Rezaei N, Pourpak Z, Farhoudi A, Moin M, Aghamohammadi A, Ramyar A, Gharagozlou M, Movahedi M, Mohammadpour B, Mirsaeid Ghazi B, Izadyar M, Mahmoudi M (2004) Clinical manifestations of Iranian patients with cyclic neutropenia. Immunology. Medimond, Italy, pp 205–208

    Google Scholar 

  152. Ristoff E, Mayatepek E, Larsson A (2001) Long-term clinical outcome in patients with glutathione synthetase deficiency. J Pediatr 139:79–84

    Article  PubMed  CAS  Google Scholar 

  153. Roberts AW, Kim C, Zhen L, Lowe JB, Kapur R, Petryniak B, Spaetti A, Pollock JD, Borneo JB, Bradford GB, Atkinson SJ, Dinauer MC, Williams DA (1999) Deficiency of the hematopoietic cell-specific Rho family GTPase Rac2 is characterized by abnormalities in neutrophil function and host defense. Immunity 10:183–196

    Article  PubMed  CAS  Google Scholar 

  154. Roos D (1996) X-CGDbase: a database of X-CGD-causing mutations. Immunol Today 17:517–521

    Article  PubMed  CAS  Google Scholar 

  155. 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 87:1663–1681

    PubMed  CAS  Google Scholar 

  156. 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 94:2955–2962

    PubMed  CAS  Google Scholar 

  157. 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 107:4628–4635

    Article  PubMed  CAS  Google Scholar 

  158. 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 28:874–881

    Article  PubMed  CAS  Google Scholar 

  159. Salmon SE, Cline MJ, Schultz J, Lehrer RI (1970) Myeloperoxidase deficiency. Immunologic study of a genetic leukocyte defect. N Engl J Med 282:250–253

    Article  PubMed  CAS  Google Scholar 

  160. Santos PE, Piontelli E, Shea YR, Galluzzo ML, Holland SM, Zelazko ME, Rosenzweig SD (2006) Penicillium piceum infection: diagnosis and successful treatment in chronic granulomatous disease. Med Mycol 44:749–753

    Article  PubMed  CAS  Google Scholar 

  161. Saxen L, Asikainen S (1993) Metronidazole in the treatment of localized juvenile periodontitis. J Clin Periodontol 20:166–171

    Article  PubMed  CAS  Google Scholar 

  162. Schaffer AA, Klein C (2007) Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 7:481–494

    Article  PubMed  Google Scholar 

  163. Segal BH, Barnhart LA, Anderson VL, Walsh TJ, Malech HL, Holland SM (2005) Posaconazole as salvage therapy in patients with chronic granulomatous disease and invasive filamentous fungal infection. Clin Infect Dis 40:1684–1688

    Article  PubMed  CAS  Google Scholar 

  164. Segal BH, DeCarlo ES, Kwon-Chung KJ, Malech HL, Gallin JI, Holland SM (1998) Aspergillus nidulans infection in chronic granulomatous disease. Medicine (Baltimore) 77:345–354

    Article  CAS  Google Scholar 

  165. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM (2000) Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79:170–200

    Article  CAS  Google Scholar 

  166. 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 100:4344–4350

    Article  PubMed  CAS  Google Scholar 

  167. Seifert R, Wenzel-Seifert K (2001) Defective Gi protein coupling in two formyl peptide receptor mutants associated with localized juvenile periodontitis. J Biol Chem 276:42043–42049

    Article  PubMed  CAS  Google Scholar 

  168. Seymour RA, Heasman PA (1995) Pharmacological control of periodontal disease. II. Antimicrobial agents. J Dent 23:5–14

    Article  PubMed  CAS  Google Scholar 

  169. Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ (2005) Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman–Diamond Syndrome. J Biol Chem 280:19221–19229

    Article  PubMed  CAS  Google Scholar 

  170. Shimamura A (2006) Shwachman–Diamond syndrome. Semin Hematol 43:178–188

    Article  PubMed  CAS  Google Scholar 

  171. Shwachman H, Diamond LK, Oski FA, Khaw KT (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 65:645–663

    Article  PubMed  CAS  Google Scholar 

  172. Siddiqui S, Anderson VL, Hilligoss DM, Abinun M, Kuijpers TW, Masur H, Witebsky FG, Shea YR, Gallin JI, Malech HL, Holland SM (2007) Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis 45:673–681

    Article  PubMed  CAS  Google Scholar 

  173. Sierre S, Lipsich J, Santos P, Hernandez C, Oleastro M, Zelazko M, Rosenzweig SD (2007) Pulmonary fungal infection diagnosis in chronic granulomatous disease patients. Pediatr Pulmonol 42:851–852

    Article  PubMed  Google Scholar 

  174. Skokowa J, Cario G, Uenalan M, Schambach A, Germeshausen M, Battmer K, Zeidler C, Lehmann U, Eder M, Baum C, Grosschedl R, Stanulla M, Scherr M, Welte K (2006) LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 12:1191–1197

    Article  PubMed  CAS  Google Scholar 

  175. Skokowa J, Germeshausen M, Zeidler C, Welte K (2007) Severe congenital neutropenia: inheritance and pathophysiology. Curr Opin Hematol 14:22–28

    Article  PubMed  Google Scholar 

  176. Smith OP (2002) Shwachman–Diamond syndrome. Semin Hematol 39:95–102

    Article  PubMed  CAS  Google Scholar 

  177. Sokolic RA, Bauer TR, Gu YC, Hai M, Tuschong LM, Burkholder T, Colenda L, Bacher J, Starost MF, Hickstein DD (2005) Nonmyeloablative conditioning with busulfan before matched littermate bone marrow transplantation results in reversal of the disease phenotype in canine leukocyte adhesion deficiency. Biol Blood Marrow Transplant 11:755–763

    Article  PubMed  CAS  Google Scholar 

  178. Southwick FS, van der Meer JW (1988) Recurrent cystitis and bladder mass in two adults with chronic granulomatous disease. Ann Intern Med 109:118–121

    PubMed  CAS  Google Scholar 

  179. Sponseller PD, Malech HL, McCarthy EF, Jr., Horowitz SF, Jaffe G, Gallin JI (1991) Skeletal involvement in children who have chronic granulomatous disease. J Bone Joint Surg Am 73:37–51

    PubMed  CAS  Google Scholar 

  180. Swaminathan V, Kishore AH, Febitha KK, Kundu TK (2005) Human histone chaperone nucleophosmin enhances acetylation-dependent chromatin transcription. Mol Cell Biol 25:7534–7545

    Article  PubMed  CAS  Google Scholar 

  181. Thomas C, Le Deist F, Cavazzana-Calvo M, Benkerrou M, Haddad E, Blanche S, Hartmann W, Friedrich W, Fischer A (1995) Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency. Blood 86:1629–1635

    PubMed  CAS  Google Scholar 

  182. Tinanoff N, Tempro P, Maderazo EG (1995) Dental treatment of Papillon-Lefevre syndrome: 15-year follow-up. J Clin Periodontol 22:609–612

    Article  PubMed  CAS  Google Scholar 

  183. Tsimikas S (2006) Oxidative biomarkers in the diagnosis and prognosis of cardiovascular disease. Am J Cardiol 98:9P–17P

    Article  PubMed  CAS  Google Scholar 

  184. van Bruggen R, Bautista JM, Petropoulou T, de Boer M, van Zwieten R, Gomez-Gallego F, Belohradsky BH, Hartwig NG, Stevens D, Mason PJ, Roos D (2002) Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood 100:1026–1030

    Article  PubMed  Google Scholar 

  185. von Planta M, Ozsahin H, Schroten H, Stauffer UG, Seger RA (1997) Greater omentum flaps and granulocyte transfusions as combined therapy of liver abscess in chronic granulomatous disease. Eur J Pediatr Surg 7:234–236

    Article  Google Scholar 

  186. 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 128:104–107

    Article  PubMed  CAS  Google Scholar 

  187. 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 178:89–97

    Article  PubMed  CAS  Google Scholar 

  188. Walther MM, Malech H, Berman A, Choyke P, Venzon DJ, Linehan WM, Gallin JI (1992) The urological manifestations of chronic granulomatous disease. J Urol 147:1314–1318

    PubMed  CAS  Google Scholar 

  189. Weening RS, Bredius RG, Wolf H, van der Schoot CE (1991) Prenatal diagnostic procedure for leukocyte adhesion deficiency. Prenat Diagn 11:193–197

    Article  PubMed  CAS  Google Scholar 

  190. Weil WM, Linton GF, Whiting-Theobald N, Vowells SJ, Rafferty SP, Li F, Malech HL (1997) Genetic correction of p67phox deficient chronic granulomatous disease using peripheral blood progenitor cells as a target for retrovirus mediated gene transfer. Blood 89:1754–1761

    PubMed  CAS  Google Scholar 

  191. Welte K, Zeidler C, Dale DC (2006) Severe congenital neutropenia. Semin Hematol 43:189–195

    Article  PubMed  CAS  Google Scholar 

  192. Whitin JC, Cohen HJ (1988) Disorders of respiratory burst termination. Hematol Oncol Clin North Am 2:289–299

    PubMed  CAS  Google Scholar 

  193. Wiebe CB, Hakkinen L, Putnins EE, Walsh P, Larjava HS (2001) Successful periodontal maintenance of a case with Papillon–Lefevre syndrome: 12-year follow-up and review of the literature. J Periodontol 72:824–830

    Article  PubMed  CAS  Google Scholar 

  194. Wild MK, Luhn K, Marquardt T, Vestweber D (2002) Leukocyte adhesion deficiency II: therapy and genetic defect. Cells Tissues Organs 172:161–173

    Article  PubMed  CAS  Google Scholar 

  195. 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) 79:155–169

    Article  CAS  Google Scholar 

  196. Wolach B, Ash S, Gavrieli R, Stark B, Yaniv I, Roos D (2005) Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report. Am J Hematol 80:50–54

    Article  PubMed  CAS  Google Scholar 

  197. Yomtovian R, Abramson J, Quie P, McCullough J (1981) Granulocyte transfusion therapy in chronic granulomatous disease. Report of a patient and review of the literature. Transfusion 21:739–743

    Article  PubMed  CAS  Google Scholar 

  198. Zeidler C, Boxer L, Dale DC, Freedman MH, Kinsey S, Welte K (2000) Management of Kostmann syndrome in the G-CSF era. Br J Haematol 109:490–495

    Article  PubMed  CAS  Google Scholar 

  199. Zeidler C, Schwinzer B, Welte K (2003) Congenital neutropenias. Rev Clin Exp Hematol 7:72–83

    PubMed  Google Scholar 

  200. Zeidler C, Welte K (2002) Kostmann syndrome and severe congenital neutropenia. Semin Hematol 39:82–88

    Article  PubMed  CAS  Google Scholar 

  201. 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 95:1195–1198

    PubMed  CAS  Google Scholar 

  202. Zhang S, Shi M, Hui CC, Rommens JM (2006) Loss of the mouse ortholog of the shwachman–diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol 26:6656–6663

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Immunodeficiency Diseases, University Children’s Hospital, 80337, Munich, Germany

    Uwe Wintergerst MD

  2. Servicio de Inmunologia, Hospital Nacional de Pediatria J. P. Garrahan, Buenos Aires, Argentina

    Sergio D. Rosenzweig MD, PhD

  3. Children’s BMT Unit, Newcastle General Hospital, NE4 6BE, Newcastle, UK

    Mario Abinun MD

  4. Laboratory of Host Defenses Genetic Immunotherapy Section, National Institute of Allergy and Infectious Diseases National Institutes of Health, Bethesda, MD, 20892-1456, USA

    Harry L. Malech MD

  5. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases National Institutes of Health, Bethesda, MD, 20892-1684, USA

    Steven M. Holland MD

  6. Immunology, Asthma and Allergy Research Institute Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, 14194, Iran

    Nima Rezaei MD

  7. Section of Infection, Inflammation and Immunity School of Medicine and Biomedical Sciences, The University of Sheffield, S10 2RX, Sheffield, UK

    Nima Rezaei MD

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  5. Steven M. Holland MD
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  6. Nima Rezaei MD
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Editor information

Editors and Affiliations

  1. Immunology, Asthma and Allergy Research Institute Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, 14194, Iran

    Nima Rezaei

  2. Section of Infection, Inflammation and Immunity School of Medicine and Biomedical Sciences, The University of Sheffield, S10 2RX, Sheffield, UK

    Nima Rezaei

  3. Division of Allergy and Clinical Immunology Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, 14194, Iran

    Asghar Aghamohammadi

  4. Division of Immunology Children’s Hospital, Harvard Medical School, Boston, MA, 02115, USA

    Luigi D. Notarangelo

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© 2008 Springer-Verlag Berlin Heidelberg

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Wintergerst, U., Rosenzweig, S.D., Abinun, M., Malech, H.L., Holland, S.M., Rezaei, N. (2008). Phagocytes Defects. 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_4

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  • DOI: https://doi.org/10.1007/978-3-540-78936-9_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-78537-8

  • Online ISBN: 978-3-540-78936-9

  • eBook Packages: MedicineMedicine (R0)

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