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Erschienen in: Clinical Reviews in Allergy & Immunology 1/2010

01.02.2010

Chronic Granulomatous Disease

verfasst von: Steven M. Holland

Erschienen in: Clinical Reviews in Allergy & Immunology | Ausgabe 1/2010

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Abstract

Chronic granulomatous disease (CGD) was first described in the 1950s and has become a paradigm for genetic neutrophil diseases. It is characterized by recurrent infections with a narrow spectrum of bacteria and fungi as well as a common set of inflammatory complications most notably including inflammatory bowel disease. Over the last half century major advances in management have profoundly altered the major clinical issues and the life expectancy of CGD. With X-linked and autosomal recessive forms, it has been an important disease for the development of bone marrow transplantation and gene therapy. Some of the recent developments in infectious syndromes, inflammatory complications, and curative approaches are discussed in this review.
Literatur
1.
Zurück zum Zitat Janeway CA, Craig J, Davidson M, Downey W, Gitlin D, Sullivan JC (1954) Hypergammaglobulinemia associated with severe, recurrent and chronic non-specific infection. Am J Dis Child 88:388–392 Janeway CA, Craig J, Davidson M, Downey W, Gitlin D, Sullivan JC (1954) Hypergammaglobulinemia associated with severe, recurrent and chronic non-specific infection. Am J Dis Child 88:388–392
2.
Zurück zum Zitat Berendes H, Bridges RA, Good RA (1957) A fatal granulomatous disease of childhood: the clinical study of a new syndrome. Minn Med 40:309PubMed Berendes H, Bridges RA, Good RA (1957) A fatal granulomatous disease of childhood: the clinical study of a new syndrome. Minn Med 40:309PubMed
3.
Zurück zum Zitat Bridges RA, Berendes H, Good RA (1959) A fatal granulomatous disease of childhood. Am J Dis Child 97:387 Bridges RA, Berendes H, Good RA (1959) A fatal granulomatous disease of childhood. Am J Dis Child 97:387
4.
Zurück zum Zitat Azimi PH, Bodenbender JG, Hintz RL, Kontras SB (1968) Chronic granulomatous disease in three female siblings. JAMA 206:2865–2870CrossRefPubMed Azimi PH, Bodenbender JG, Hintz RL, Kontras SB (1968) Chronic granulomatous disease in three female siblings. JAMA 206:2865–2870CrossRefPubMed
5.
Zurück zum Zitat Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM (2000) Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79:170–200CrossRef Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM (2000) Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79:170–200CrossRef
6.
Zurück zum Zitat Ushio-Fukai M (2006) Localizing NADPH oxidase-derived ROS. Sci STKE 349:re8CrossRef Ushio-Fukai M (2006) Localizing NADPH oxidase-derived ROS. Sci STKE 349:re8CrossRef
7.
Zurück zum Zitat Reeves EP, Lu H, Jacobs HL, Messina CGM, 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 416:291–297CrossRefPubMed Reeves EP, Lu H, Jacobs HL, Messina CGM, 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 416:291–297CrossRefPubMed
8.
Zurück zum Zitat 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 129:103–114CrossRefPubMed 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 129:103–114CrossRefPubMed
9.
Zurück zum Zitat Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs HD, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79:155–169CrossRef Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs HD, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79:155–169CrossRef
10.
Zurück zum Zitat 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 235:383–391CrossRefPubMed 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 235:383–391CrossRefPubMed
11.
Zurück zum Zitat Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, Rossi P, Gattorno M, Rabusin M, Azzari C, Dellepiane RM, Pietrogrande MC, Trizzino A, Di Bartolomeo P, Martino S, Carpino L, Cossu F, Locatelli F, Maccario R, Pierani P, Putti MC, Stabile A, Notarangelo LD, Ugazio AG, Plebani A, De Mattia D, IPINET (2008) Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol 126:155–164CrossRefPubMed Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, Rossi P, Gattorno M, Rabusin M, Azzari C, Dellepiane RM, Pietrogrande MC, Trizzino A, Di Bartolomeo P, Martino S, Carpino L, Cossu F, Locatelli F, Maccario R, Pierani P, Putti MC, Stabile A, Notarangelo LD, Ugazio AG, Plebani A, De Mattia D, IPINET (2008) Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol 126:155–164CrossRefPubMed
12.
Zurück zum Zitat 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 348:2416–2422CrossRefPubMed 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 348:2416–2422CrossRefPubMed
13.
Zurück zum Zitat 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 39:692–699CrossRefPubMed 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 39:692–699CrossRefPubMed
14.
Zurück zum Zitat Soncini E, Slatter MA, Jones LB, Hughes S, Hodges S, Flood TJ, Barge D, Spickett GP, Jackson GH, Collin MP, Abinun M, Cant AJ, Gennery AR (2009) Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol 145:73–83CrossRefPubMed Soncini E, Slatter MA, Jones LB, Hughes S, Hodges S, Flood TJ, Barge D, Spickett GP, Jackson GH, Collin MP, Abinun M, Cant AJ, Gennery AR (2009) Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol 145:73–83CrossRefPubMed
15.
Zurück zum Zitat Kobayashi S, Murayama S, Takanashi S, Takahashi K, Miyatsuka S, Fujita T, Ichinohe S, Koike Y, Kohagizawa T, Mori H, Deguchi Y, Higuchi K, Wakasugi H, Sato T, Wada Y, Nagata M, Okabe N, Tatsuzawa O (2008) Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan. Eur J Pediatr 167:1389–1394CrossRefPubMed Kobayashi S, Murayama S, Takanashi S, Takahashi K, Miyatsuka S, Fujita T, Ichinohe S, Koike Y, Kohagizawa T, Mori H, Deguchi Y, Higuchi K, Wakasugi H, Sato T, Wada Y, Nagata M, Okabe N, Tatsuzawa O (2008) Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan. Eur J Pediatr 167:1389–1394CrossRefPubMed
16.
Zurück zum Zitat Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C (1989) Incidence, severity and prevention of infections in chronic granulomatous disease. J Pediatr 114:555–560CrossRefPubMed Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C (1989) Incidence, severity and prevention of infections in chronic granulomatous disease. J Pediatr 114:555–560CrossRefPubMed
17.
Zurück zum Zitat Margolis DM, Melnick DA, Alling DW, Gallin JI (1990) Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 162:723–726PubMed Margolis DM, Melnick DA, Alling DW, Gallin JI (1990) Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 162:723–726PubMed
18.
Zurück zum Zitat Ross JP, Holland SM, Gill VJ, DeCarlo ES, Gallin JI (1995) Severe Burkholderia (Pseudomonas) gladioli infection in chronic granulomatous disease: report of two successfully treated cases. Clin Infect Dis 21:1291–1293PubMed Ross JP, Holland SM, Gill VJ, DeCarlo ES, Gallin JI (1995) Severe Burkholderia (Pseudomonas) gladioli infection in chronic granulomatous disease: report of two successfully treated cases. Clin Infect Dis 21:1291–1293PubMed
19.
Zurück zum Zitat Kennedy MP, Coakley RD, Donaldson SH, Aris RM, Hohneker K, Wedd JP, Knowles MR, Gilligan PH, Yankaskas JR (2007) Burkholderia gladioli: five year experience in a cystic fibrosis and lung transplantation center. J Cyst Fibros 6:267–273CrossRefPubMed Kennedy MP, Coakley RD, Donaldson SH, Aris RM, Hohneker K, Wedd JP, Knowles MR, Gilligan PH, Yankaskas JR (2007) Burkholderia gladioli: five year experience in a cystic fibrosis and lung transplantation center. J Cyst Fibros 6:267–273CrossRefPubMed
20.
Zurück zum Zitat Sirinavin S, Techasaensiri C, Benjaponpitak S, Pornkul R, Vorachit M (2005) Invasive Chromobacterium violaceum infection in children: case report and review. Pediatr Infect Dis J 24:559–561CrossRefPubMed Sirinavin S, Techasaensiri C, Benjaponpitak S, Pornkul R, Vorachit M (2005) Invasive Chromobacterium violaceum infection in children: case report and review. Pediatr Infect Dis J 24:559–561CrossRefPubMed
21.
Zurück zum Zitat Mailman TL, Schmidt MH (2005) Francisella philomiragia adenitis and pulmonary nodules in a child with chronic granulomatous disease. Can J Infect Dis Med Microbiol 16:245–248PubMed Mailman TL, Schmidt MH (2005) Francisella philomiragia adenitis and pulmonary nodules in a child with chronic granulomatous disease. Can J Infect Dis Med Microbiol 16:245–248PubMed
22.
Zurück zum Zitat 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:e28CrossRefPubMed 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:e28CrossRefPubMed
23.
Zurück zum Zitat López FC, de Luna FF, Delgado MC, de la Rosa II, Valdezate S, Nieto JA, Casal M (2008) Granulibacter bethesdensis isolated in a child patient with chronic granulomatous disease. J Infect 57:275–277CrossRefPubMed López FC, de Luna FF, Delgado MC, de la Rosa II, Valdezate S, Nieto JA, Casal M (2008) Granulibacter bethesdensis isolated in a child patient with chronic granulomatous disease. J Infect 57:275–277CrossRefPubMed
24.
Zurück zum Zitat Williamson PR, Kwon-Chung KJ, Gallin JI (1992) Successful treatment of Paecilomyces varioti infection in a patient with chronic granulomatous disease and a review of Paecilomyces species infections. Clin Infect Dis 14:1023–1026PubMed Williamson PR, Kwon-Chung KJ, Gallin JI (1992) Successful treatment of Paecilomyces varioti infection in a patient with chronic granulomatous disease and a review of Paecilomyces species infections. Clin Infect Dis 14:1023–1026PubMed
25.
Zurück zum Zitat Segal BH, DeCarlo ES, Kwon-Chung KJ, Malech HL, Gallin JI, Holland SM (1998) Aspergillus nidulans infection in chronic granulomatous disease. Medicine (Baltimore) 77:345–354CrossRef Segal BH, DeCarlo ES, Kwon-Chung KJ, Malech HL, Gallin JI, Holland SM (1998) Aspergillus nidulans infection in chronic granulomatous disease. Medicine (Baltimore) 77:345–354CrossRef
26.
Zurück zum Zitat Vinh DC, Shea YR, Sugui JA, Parrilla-Castellar ER, Freeman AF et al (2009) Invasive aspergillosis due to Neosartorya udagawae. Clin Infect Dis (in press) Vinh DC, Shea YR, Sugui JA, Parrilla-Castellar ER, Freeman AF et al (2009) Invasive aspergillosis due to Neosartorya udagawae. Clin Infect Dis (in press)
27.
Zurück zum Zitat Vinh DC, Freeman AF, Shea YR, Malech HL, Abinun M, Weinberg GA, Holland SM (2009) Mucormycosis in chronic granulomatous disease: association with iatrogenic immunosuppression. J Allergy Clin Immunol (in press) Vinh DC, Freeman AF, Shea YR, Malech HL, Abinun M, Weinberg GA, Holland SM (2009) Mucormycosis in chronic granulomatous disease: association with iatrogenic immunosuppression. J Allergy Clin Immunol (in press)
28.
Zurück zum Zitat Morgenstern DE, Gifford MA, Li LL, Doerschuk CM, Dinauer MC (1997) Absence of respiratory burst in X-linked chronic granulomatous disease mice leads to abnormalities in both host defense and inflammatory response to Aspergillus fumigatus. J Exp Med 185:207–218CrossRefPubMed Morgenstern DE, Gifford MA, Li LL, Doerschuk CM, Dinauer MC (1997) Absence of respiratory burst in X-linked chronic granulomatous disease mice leads to abnormalities in both host defense and inflammatory response to Aspergillus fumigatus. J Exp Med 185:207–218CrossRefPubMed
29.
Zurück zum Zitat 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 45:673–681CrossRefPubMed 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 45:673–681CrossRefPubMed
30.
Zurück zum Zitat 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 114:462–468CrossRefPubMed 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 114:462–468CrossRefPubMed
31.
Zurück zum Zitat Marks DJ, Miyagi K, Rahman FZ, Novelli M, Bloom SL, Segal AW (2009) Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol 104:117–124CrossRefPubMed Marks DJ, Miyagi K, Rahman FZ, Novelli M, Bloom SL, Segal AW (2009) Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol 104:117–124CrossRefPubMed
32.
Zurück zum Zitat 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 45:675–683CrossRefPubMed 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 45:675–683CrossRefPubMed
33.
Zurück zum Zitat Feld JJ, Hussain N, Wright EC, Kleiner DE, Hoofnagle JH, Ahlawat S, Anderson V, Hilligoss D, Gallin JI, Liang TJ, Malech HL, Holland SM, Heller T (2008) Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. Gastroenterology 134:1917–1926CrossRefPubMed Feld JJ, Hussain N, Wright EC, Kleiner DE, Hoofnagle JH, Ahlawat S, Anderson V, Hilligoss D, Gallin JI, Liang TJ, Malech HL, Holland SM, Heller T (2008) Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. Gastroenterology 134:1917–1926CrossRefPubMed
34.
Zurück zum Zitat Walther MM, Malech HL, Berman A, Choyke P, Venzon DJ, Linehan WM, Gallin JI (1992) The urologic manifestations of chronic granulomatous disease. J Urol 147:1314–1318PubMed Walther MM, Malech HL, Berman A, Choyke P, Venzon DJ, Linehan WM, Gallin JI (1992) The urologic manifestations of chronic granulomatous disease. J Urol 147:1314–1318PubMed
35.
Zurück zum Zitat Bendhack ML, Vögeli T, Schroten H, Gerharz CD, Ackermann R (1997) Chronic granulomatous disease masquerading as a bladder tumor: a potential source of diagnostic error. Eur Urol 32:380–384PubMed Bendhack ML, Vögeli T, Schroten H, Gerharz CD, Ackermann R (1997) Chronic granulomatous disease masquerading as a bladder tumor: a potential source of diagnostic error. Eur Urol 32:380–384PubMed
36.
Zurück zum Zitat Kis E, Verebély T, Mészner Z (2002) Inflammatory pseudotumor of the bladder in chronic granulomatous disease. Pediatr Nephrol 17:220–221CrossRefPubMed Kis E, Verebély T, Mészner Z (2002) Inflammatory pseudotumor of the bladder in chronic granulomatous disease. Pediatr Nephrol 17:220–221CrossRefPubMed
37.
Zurück zum Zitat Hauck F, Heine S, Beier R, Wieczorek K, Müller D, Hahn G, Gahr M, Rösen-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 30:877–880CrossRefPubMed Hauck F, Heine S, Beier R, Wieczorek K, Müller D, Hahn G, Gahr M, Rösen-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 30:877–880CrossRefPubMed
38.
Zurück zum Zitat Barese CN, Podestá M, Litvak E, Villa M, Rivas EM (2004) Recurrent eosinophilic cystitis in a child with chronic granulomatous disease. J Pediatr Hematol Oncol 26:209–212CrossRefPubMed Barese CN, Podestá M, Litvak E, Villa M, Rivas EM (2004) Recurrent eosinophilic cystitis in a child with chronic granulomatous disease. J Pediatr Hematol Oncol 26:209–212CrossRefPubMed
39.
Zurück zum Zitat Elloumi HZ, Holland SM (2007) Diagnostic assays for chronic granulomatous disease and other neutrophil disorders. Methods Mol Biol 412:505–523CrossRefPubMed Elloumi HZ, Holland SM (2007) Diagnostic assays for chronic granulomatous disease and other neutrophil disorders. Methods Mol Biol 412:505–523CrossRefPubMed
40.
Zurück zum Zitat Mauch L, Lun A, O’Gorman MR, Harris JS, Schulze I, Zychlinsky A, Fuchs T, Oelschlägel U, Brenner S, Kutter D, Rösen-Wolff A, Roesler J (2007) Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. Clin Chem 53:890–896CrossRefPubMed Mauch L, Lun A, O’Gorman MR, Harris JS, Schulze I, Zychlinsky A, Fuchs T, Oelschlägel U, Brenner S, Kutter D, Rösen-Wolff A, Roesler J (2007) Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. Clin Chem 53:890–896CrossRefPubMed
41.
Zurück zum Zitat Ferguson PJ, Lokuta MA, El-Shanti HI, Muhle L, Bing X, Huttenlocher A (2008) Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype. Arthritis Rheum 58:3264–3269CrossRefPubMed Ferguson PJ, Lokuta MA, El-Shanti HI, Muhle L, Bing X, Huttenlocher A (2008) Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype. Arthritis Rheum 58:3264–3269CrossRefPubMed
42.
Zurück zum Zitat 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 94:2955–2962PubMed 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 94:2955–2962PubMed
43.
Zurück zum Zitat Rösen-Wolff A, Soldan W, Heyne K, Bickhardt J, Gahr M, Roesler J (2001) Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Ann Hematol 80:113–115CrossRefPubMed Rösen-Wolff A, Soldan W, Heyne K, Bickhardt J, Gahr M, Roesler J (2001) Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Ann Hematol 80:113–115CrossRefPubMed
44.
Zurück zum Zitat 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 104:495–505CrossRefPubMed 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 104:495–505CrossRefPubMed
45.
Zurück zum Zitat 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 43:390–398PubMed 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 43:390–398PubMed
46.
Zurück zum Zitat Rupec RA, Petropoulou T, Belohradsky BH, Walchner M, Liese JG, Plewing G, Messer G (2000) Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease. Eur J Dermatol 10:184–189PubMed Rupec RA, Petropoulou T, Belohradsky BH, Walchner M, Liese JG, Plewing G, Messer G (2000) Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease. Eur J Dermatol 10:184–189PubMed
47.
Zurück zum Zitat 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 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
48.
Zurück zum Zitat Rex JH, Bennett JE, Gallin JI, Malech HL, DeCarlo ES, Melnick DA (1991) In vivo interferon-gamma therapy augments the in vitro ability of chronic granulomatous disease neutrophils to damage Aspergillus hyphae. J Infect Dis 163:849–852PubMed Rex JH, Bennett JE, Gallin JI, Malech HL, DeCarlo ES, Melnick DA (1991) In vivo interferon-gamma therapy augments the in vitro ability of chronic granulomatous disease neutrophils to damage Aspergillus hyphae. J Infect Dis 163:849–852PubMed
49.
Zurück zum Zitat Jackson SH, Miller GF, Segal BH, Mardiney M 3rd, Domachowske JB, Gallin JI, Holland SM (2001) IFN-gamma is effective in reducing infections in the mouse model of chronic granulomatous disease (CGD). J Interferon Cytokine Res 21:567–573CrossRefPubMed Jackson SH, Miller GF, Segal BH, Mardiney M 3rd, Domachowske JB, Gallin JI, Holland SM (2001) IFN-gamma is effective in reducing infections in the mouse model of chronic granulomatous disease (CGD). J Interferon Cytokine Res 21:567–573CrossRefPubMed
50.
Zurück zum Zitat Seger RA, Gungor T, Belohradsky BH, Blanche S, Bordigoni P, Di Bartolomeo P, Flood T, Landais P, Müller 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 100:4344–4350CrossRefPubMed Seger RA, Gungor T, Belohradsky BH, Blanche S, Bordigoni P, Di Bartolomeo P, Flood T, Landais P, Müller 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 100:4344–4350CrossRefPubMed
51.
Zurück zum Zitat Kamani N, August CS, Campbell DE, Hassan NF, Douglas SD (1988) Marrow transplantation in chronic granulomatous disease: an update with 6 year follow-up. J Pediatr 113:697–700CrossRefPubMed Kamani N, August CS, Campbell DE, Hassan NF, Douglas SD (1988) Marrow transplantation in chronic granulomatous disease: an update with 6 year follow-up. J Pediatr 113:697–700CrossRefPubMed
52.
Zurück zum Zitat 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 92:2719–2724PubMed 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 92:2719–2724PubMed
53.
Zurück zum Zitat 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 T-cell-depleted hematopoietic allograft. N Engl J Med 344:881–888CrossRefPubMed 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 T-cell-depleted hematopoietic allograft. N Engl J Med 344:881–888CrossRefPubMed
54.
Zurück zum Zitat Seger RA (2008) Modern management of chronic granulomatous disease. Br J Haematol 140:255–266CrossRefPubMed Seger RA (2008) Modern management of chronic granulomatous disease. Br J Haematol 140:255–266CrossRefPubMed
55.
Zurück zum Zitat Kang EM, Malech HL (2008) Advances in treatment for chronic granulomatous disease. Immunol Res 43:77–84CrossRef Kang EM, Malech HL (2008) Advances in treatment for chronic granulomatous disease. Immunol Res 43:77–84CrossRef
56.
Zurück zum Zitat Cavazzana-Calvo M, Fischer A (2007) Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest 117:1456–1465CrossRefPubMed Cavazzana-Calvo M, Fischer A (2007) Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest 117:1456–1465CrossRefPubMed
57.
Zurück zum Zitat 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 94:12133–12138CrossRefPubMed 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 94:12133–12138CrossRefPubMed
58.
Zurück zum Zitat Ryser MF, Roesler J, Gentsch M, Brenner S (2007) Gene therapy for chronic granulomatous disease. Expert Opin Biol Ther 7:1799–1809CrossRefPubMed Ryser MF, Roesler J, Gentsch M, Brenner S (2007) Gene therapy for chronic granulomatous disease. Expert Opin Biol Ther 7:1799–1809CrossRefPubMed
59.
Zurück zum Zitat Kono H, Rusyn I, Yin M, Gäbele E, Yamashina S, Dikalova A, Kadiiska MB, Connor HD, Mason RP, Segal BH, Bradford BU, Holland SM, Thurman RG (2000) NADPH oxidase-derived free radicals are key oxidants in alcohol-induced liver disease. J Clin Invest 106:867–872CrossRefPubMed Kono H, Rusyn I, Yin M, Gäbele E, Yamashina S, Dikalova A, Kadiiska MB, Connor HD, Mason RP, Segal BH, Bradford BU, Holland SM, Thurman RG (2000) NADPH oxidase-derived free radicals are key oxidants in alcohol-induced liver disease. J Clin Invest 106:867–872CrossRefPubMed
60.
Zurück zum Zitat Rusyn I, Kadiiska MB, Dikalova A, Kono H, Yin M, Tsuchiya K, Mason RP, Peters JM, Gonzalez FJ, Segal BH, Holland SM, Thurman RG (2001) Phthalates rapidly increase production of reactive oxygen species in vivo: role of Kupffer cells. Mol Pharmacol 59:744–750PubMed Rusyn I, Kadiiska MB, Dikalova A, Kono H, Yin M, Tsuchiya K, Mason RP, Peters JM, Gonzalez FJ, Segal BH, Holland SM, Thurman RG (2001) Phthalates rapidly increase production of reactive oxygen species in vivo: role of Kupffer cells. Mol Pharmacol 59:744–750PubMed
61.
Zurück zum Zitat Barry-Lane PA, Patterson C, van der Merwe M, Hu Z, Holland SM, Yeh ET, Runge MS (2001) p47 phox is required for atherosclerotic lesion progression in ApoE(−/−) mice. J Clin Invest 108:1513–1522PubMed Barry-Lane PA, Patterson C, van der Merwe M, Hu Z, Holland SM, Yeh ET, Runge MS (2001) p47 phox is required for atherosclerotic lesion progression in ApoE(−/−) mice. J Clin Invest 108:1513–1522PubMed
62.
Zurück zum Zitat Hsich E, Segal BH, Pagano PJ, Rey FE, Paigen B, Deleonardis J, Hoyt RF, Holland SM, Finkel T (2000) Vascular effects following homozygous disruption of p47(phox): an essential component of NADPH oxidase. Circulation 101:1234–1236PubMed Hsich E, Segal BH, Pagano PJ, Rey FE, Paigen B, Deleonardis J, Hoyt RF, Holland SM, Finkel T (2000) Vascular effects following homozygous disruption of p47(phox): an essential component of NADPH oxidase. Circulation 101:1234–1236PubMed
63.
Zurück zum Zitat Kishida KT, Hoeffer CA, Hu D, Pao M, Holland SM, Klann E (2006) Synaptic plasticity deficits and mild memory impairments in mouse models of chronic granulomatous disease. Mol Cell Biol 26:5908–5920CrossRefPubMed Kishida KT, Hoeffer CA, Hu D, Pao M, Holland SM, Klann E (2006) Synaptic plasticity deficits and mild memory impairments in mouse models of chronic granulomatous disease. Mol Cell Biol 26:5908–5920CrossRefPubMed
64.
Zurück zum Zitat Pao M, Wiggs EA, Anastacio MM, Hyun J, DeCarlo ES, Miller JT, Anderson VL, Malech HL, Gallin JI, Holland SM (2004) Cognitive function in patients with chronic granulomatous disease: a preliminary report. Psychosomatics 45:230–234CrossRefPubMed Pao M, Wiggs EA, Anastacio MM, Hyun J, DeCarlo ES, Miller JT, Anderson VL, Malech HL, Gallin JI, Holland SM (2004) Cognitive function in patients with chronic granulomatous disease: a preliminary report. Psychosomatics 45:230–234CrossRefPubMed
65.
Zurück zum Zitat Walder CE, Green SP, Darbonne WC, Mathias J, Rae J, Dinauer MC, Curnutte JT, Thomas GR (1997) Ischemic stroke injury is reduced in mice lacking a functional NADPH oxidase. Stroke 28:2252–2258PubMed Walder CE, Green SP, Darbonne WC, Mathias J, Rae J, Dinauer MC, Curnutte JT, Thomas GR (1997) Ischemic stroke injury is reduced in mice lacking a functional NADPH oxidase. Stroke 28:2252–2258PubMed
Metadaten
Titel
Chronic Granulomatous Disease
verfasst von
Steven M. Holland
Publikationsdatum
01.02.2010
Verlag
Humana Press Inc
Erschienen in
Clinical Reviews in Allergy & Immunology / Ausgabe 1/2010
Print ISSN: 1080-0549
Elektronische ISSN: 1559-0267
DOI
https://doi.org/10.1007/s12016-009-8136-z

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