Chronic Granulomatous Disease
Tóm tắt
Từ khóa
Tài liệu tham khảo
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
Berendes H, Bridges RA, Good RA (1957) A fatal granulomatous disease of childhood: the clinical study of a new syndrome. Minn Med 40:309
Bridges RA, Berendes H, Good RA (1959) A fatal granulomatous disease of childhood. Am J Dis Child 97:387
Azimi PH, Bodenbender JG, Hintz RL, Kontras SB (1968) Chronic granulomatous disease in three female siblings. JAMA 206:2865–2870
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
Ushio-Fukai M (2006) Localizing NADPH oxidase-derived ROS. Sci STKE 349:re8
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 416:291–297
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 129:103–114
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) 79:155–169
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
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 126:155–164
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
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
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 145:73–83
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 167:1389–1394
Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C (1989) Incidence, severity and prevention of infections in chronic granulomatous disease. J Pediatr 114:555–560
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
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 21:1291–1293
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 6:267–273
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 24:559–561
Mailman TL, Schmidt MH (2005) Francisella philomiragia adenitis and pulmonary nodules in a child with chronic granulomatous disease. Can J Infect Dis Med Microbiol 16:245–248
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
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 57:275–277
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 14:1023–1026
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
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, 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)
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 185:207–218
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
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
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 104:117–124
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
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 134:1917–1926
Walther MM, Malech HL, Berman A, Choyke P, Venzon DJ, Linehan WM, Gallin JI (1992) The urologic manifestations of chronic granulomatous disease. J Urol 147:1314–1318
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 32:380–384
Kis E, Verebély T, Mészner Z (2002) Inflammatory pseudotumor of the bladder in chronic granulomatous disease. Pediatr Nephrol 17:220–221
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 30:877–880
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 26:209–212
Elloumi HZ, Holland SM (2007) Diagnostic assays for chronic granulomatous disease and other neutrophil disorders. Methods Mol Biol 412:505–523
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 53:890–896
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 58:3264–3269
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
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 80:113–115
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
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
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 10:184–189
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
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 163:849–852
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 21:567–573
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 100:4344–4350
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 113:697–700
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
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 344:881–888
Kang EM, Malech HL (2008) Advances in treatment for chronic granulomatous disease. Immunol Res 43:77–84
Cavazzana-Calvo M, Fischer A (2007) Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest 117:1456–1465
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
Ryser MF, Roesler J, Gentsch M, Brenner S (2007) Gene therapy for chronic granulomatous disease. Expert Opin Biol Ther 7:1799–1809
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 106:867–872
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 59:744–750
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 108:1513–1522
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 101:1234–1236
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 26:5908–5920
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 45:230–234