Infections associated with chronic granulomatous disease: linking genetics to phenotypic expression

Reference

• Wolach B, Gavrieli R, Roos D, Berger-Achituv S. Lessons learned from phagocytic function studies in a large cohort of patients with recurrent infections. J. Clin. Immunol. 32(3), 454–466 (2012).
   PubMedGoogle Scholar
• van den Berg JM, Kuijpers T. Educational paper: defects in number and function of neutrophilic granulocytes causing primary immunodeficiency. Eur. J. Pediatr. 4, 1369–1376 (2011).
   Google Scholar
• de Vries E, Driessen G. Educational paper: primary immunodeficiencies in children: a diagnostic challenge. Eur. J. Pediatr. 170(2), 169–177 (2011).
   PubMedGoogle Scholar
• Golan H, Dalal I, Garty BZ et al. The incidence of primary immunodeficiency syndromes in Israel. Isr. Med. Assoc. J. 4(11Suppl.), 868–871 (2002).
   PubMedGoogle Scholar
• Janeway CA, Craig J, Davidson M, Downey W, Gitlin D, Sullivan JC. Hypergammaglobulinemia associated with severe, recurrent and chronic non-specific infection. Am. J. Dis. Child. 88, 388–392 (1954).
   Google Scholar
• Bridges RA, Berendes H, Good RA. A fatal granulomatous disease of childhood: clinical, pathological and laboratory features of a new syndrome. Am. J. Dis. Child. 97, 387–408 (1959).
   PubMedGoogle Scholar
• Kim YM, Park J E, Kim JY et al. Genetic analysis of 10 unrelated Korean families with p22-phox deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea. J. Korean Med. Sci. 24, 1045–1050 (2009).
   PubMedGoogle Scholar
• Wolach B, Gavrieli R, de Boer M et al. Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients. Clin. Immunol. 129(1), 103–114 (2008).
   PubMedGoogle Scholar
• van den Berg JM, van Koppen E, Ahlin A et al. Chronic granulomatous disease: the European experience. PLoS ONE 4(4), e5234 (2009).
   PubMedGoogle Scholar
• Winkelstein JA, Marino MC, Johnston RB Jr et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79(3), 155–169 (2000).
   PubMed Web of Science ®Google Scholar
• Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79(3), 170–200 (2000).
   PubMed Web of Science ®Google Scholar
• Holland SM. Chronic granulomatous disease. Clin. Rev. Allergy Immunol. 38(1), 3–10 (2010).
   PubMed Web of Science ®Google Scholar
• Martire B, Rondelli R, Soresina A et al.; IPINET. 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(2), 155–164 (2008).
   PubMed Web of Science ®Google Scholar
• Liese J, Kloos S, Jendrossek V et al. Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. J. Pediatr. 137(5), 687–693 (2000).
   PubMed Web of Science ®Google Scholar
• Jones LB, McGrogan P, Flood TJ et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin. Exp. Immunol. 152(2), 211–218 (2008).
   PubMed Web of Science ®Google Scholar
• Dinauer MC. Disorders of neutrophil function: an overview. Methods Mol. Biol. 412, 489–504 (2007).
   PubMedGoogle Scholar
• Segal BH, Veys P, Malech H, Cowan MJ. Chronic granulomatous disease: lessons from a rare disorder. Biol. Blood Marrow Transplant. 17(1 Suppl.), S123–S131 (2011).
   PubMed Web of Science ®Google Scholar
• Stasia MJ, Li XJ. Genetics and immunopathology of chronic granulomatous disease. Semin. Immunopathol. 30(3), 209–235 (2008).
   PubMed Web of Science ®Google Scholar
• Roos D, Kuijpers TW, Curnutte JT. Chronic granulomatous disease. In: Primary Immunodeficiency Diseases, a Molecular and Genetic Approach. Ochs HD, Smith CIE, Puck JM (Eds). Oxford University Press, NY, USA, 525–549 (2007).
   Google Scholar
• Kuhns DB, Alvord WG, Heller T et al. Residual NADPH-oxidase and survival in chronic granulomatous disease. N. Engl. J. Med. 363, 2600–2610 (2010).
   PubMed Web of Science ®Google Scholar
• Kuijpers T, Lutter R. Inflammation and repeated infections in CGD: two sides of a coin. Cell. Mol. Life Sci. 69(1), 7–15 (2012).
   PubMed Web of Science ®Google Scholar
• Schäppi MG, Jaquet V, Belli DC, Krause KH. Hyperinflammation in chronic granulomatous disease and anti-inflammatory role of the phagocyte NADPH oxidase. Semin. Immunopathol. 30(3), 255–271 (2008).
   PubMedGoogle Scholar
• Rieber N, Hector A, Kuijpers T, Roos D, Hartl D. Current concepts ofhyperinflammation in chronic granulomatous disease. Clin. Dev. Immunol. 2012, 252460 (2012).
   PubMedGoogle Scholar
• De Ravin SS, Naumann N, Cowen EW et al. Chronic granulomatous disease as arisk factor for autoimmune disease. J.Allergy Clin. Immunol. 122(6), 1097–1103 (2008).
   PubMedGoogle Scholar
• Parekh C, Hofstra T, Church JA, Coates TD. Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease. Pediatr. Blood Cancer 56(3), 460–462 (2011).
   PubMedGoogle Scholar
• Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Blood 105(1), 61–66 (2005).
   PubMed Web of Science ®Google Scholar
• Isman-Nelkenbaum G, Wolach B, Gavrieli R et al. Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year old individual. Clin. Exp. Dermatol. 36, 759–762 (2011).
   PubMedGoogle Scholar
• Mueller N. Overview of the epidemiology of malignancy in immune deficiency. J.Acquir. Immune Defic. Syndr. 21(Supp.1), S5–S10 (1999).
   PubMed Web of Science ®Google Scholar
• Wolach B, Ash S, Gavrieli R, Stark B, Yaniv I, Roos D. Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report. Am. J. Hematol. 80(1), 50–54 (2005).
   PubMedGoogle Scholar
• Weel EA, Redekop WK, Weening RS. Increased risk of malignancy for patients with chronic granulomatous disease and its possible link to the pathogenesis of cancer. Eur. J. Cancer 32A(4), 734–735 (1996).
   PubMedGoogle Scholar
• Seger RA. Modern management of chronic granulomatous disease. Br. J. Haematol. 140(3), 255–266 (2008).
   PubMedGoogle Scholar
• The International Chronic Granulomatous Disease Cooperative Study Group: a controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N. Engl. J. Med. 324, 509–516 (1991).
   PubMed Web of Science ®Google Scholar
• Bemiller LS, Roberts DH, Starko KM, Curnutte JT. Safety and effectiveness of long-term interferon gamma therapy in patients with chronic granulomatous disease. Blood Cells Mol. Dis. 21(3), 239–247 (1995).
   PubMed Web of Science ®Google Scholar
• Woodman RC, Erickson RW, Rae J, Jaffe HS, Curnutte JT. Prolonged recombinant interferon-gamma therapy in chronic granulomatous disease: evidence against enhanced neutrophil oxidase activity. Blood 79(6), 1558–1562 (1992).
   PubMed Web of Science ®Google Scholar
• Kang EM, Marciano BE, DeRavin S, Zarember KA, Holland SM, Malech HL. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J. Allergy Clin. Immunol. 127(6), 1319–1326; quiz 1327 (2011).
   PubMed Web of Science ®Google Scholar
• Seger RA, Gungor T, Belohradsky BH et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: asurvey of the European experience, 1985-2000. Blood 100(13), 4344–4350 (2002).
   PubMed Web of Science ®Google Scholar
• Soncini E, Slatter MA, Jones LB et al. 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(1), 73–83 (2009).
   PubMed Web of Science ®Google Scholar
• Tewari P, Martin PL, Mendizabal A et al. Myeloablative transplantation using either cord blood or bone marrow leads to immune recovery, high long-term donor chimerism and excellent survival in chronic granulomatous disease. Biol. Blood Marrow Transplant. 18(9), 1368–1377 (2012).
   PubMedGoogle Scholar
• Grez M, Reichenbach J, Schwable J, Seger R, Dinauer M, Thrasher AJ. Gene therapy for chronic granulomatous disease: the engraftment dilemma. Mol. Therapy 19, 28–35 (2011).
   PubMed Web of Science ®Google Scholar
• Santilli G, Almarza E, Brendel C et al. Biochemical correction of X-CGD by a novel chimeric promoter regulating high levels of transgene expression in myeloid cells. Mol. Ther. 19(1), 122–132 (2011).
   PubMed Web of Science ®Google Scholar
• Roos D, Kuhns DB, Maddalena A et al. Hematologically important mutations: theautosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol. Dis. 44(4), 291–299 (2010).
   PubMed Web of Science ®Google Scholar
• Matute JD, Arias AA, Wright NA et al. Anew genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 114(15), 3309–3315 (2009).
   PubMed Web of Science ®Google Scholar
• Fattahi F, Badalzadeh M, Sedighipour L et al. Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease. J. Clin. Immunol. 31(5), 792–801 (2011).
   PubMed Web of Science ®Google Scholar
• Marciano BE, Rosenzweig SD, Kleiner DE et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 114(2), 462–468 (2004).
   PubMed Web of Science ®Google Scholar
• Wolach B, Broides A, Zeeli T et al. Two X-linked chronic granulomatous disease patients with unusual NADPH-oxidase properties. J. Clin. Immun. 31, 560–566 (2011).
   PubMed Web of Science ®Google Scholar
• Stasia MJ, Lardy B, Maturana A et al. Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the gp91-phox cytosolic C-terminal tail. Biochim. Biophys. Acta. 1586, 316–330 (2002).
   PubMedGoogle Scholar
• Bylund J, Brown KL, Movitz C, Dahlgren C, Karlsson A. Intracellular generation of superoxide by the phagocyte NADPH oxidase: how, where, and what for? Free Radic. Biol. Med. 49(12), 1834–1845 (2010).
   PubMed Web of Science ®Google Scholar
• Guide SV, Stock F, Gill VJ et al. Reinfection rather than persistent infection, in patients with chronic granulomatous disease. J. Infect. Dis. 187, 845–853 (2003).
   PubMed Web of Science ®Google Scholar
• Lee PP, Chan KW, Jiang L et al. Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. Pediatr. Infect. Dis. J. 27(3), 224–230 (2008).
   PubMed Web of Science ®Google Scholar
• Martín A, Marques L, Soler-Palacín P et al. Viceral leishmaniasis associated hemophagocytic syndrome in patients with chronic granulomatous disease. Pediatr. Infect. Dis. J. 28(8), 753–754 (2009).
   PubMedGoogle Scholar
• Lyratzopoulos G, Ellis M, Nerringer R, Denning DW. Invasive infection due to penicillium species other than P. marneffei. J. Infect. 45(3), 184–195 (2002).
   PubMed Web of Science ®Google Scholar
• Beaute J, Obenga G, Le Mignot L et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr. Infect. Dis. J. 30, 57–62 (2011).
   PubMed Web of Science ®Google Scholar
• Blumental S, Mouy R, Mahlahoui N et al. Invasive mold infections in chronic granulomatous disease: a 25 year retrospective survey. Clin. Infect. Dis. 53(12), e159–e169 (2011).
   PubMedGoogle Scholar
• Segal B, Romani LR. Invasive aspergillosis in chronic granulomatous disease. Med. Mycol. 18, 51–59 (2009).
   Google Scholar
• Vinh DC, Shea YR, Jones PA, Freeman AF, Zelazny A, Holland SM. Chronic invasive aspergillosis caused by Aspergillus viridinutans. Emerging Infect. Dis. 15(8), 1292–1294 (2009).
   PubMed Web of Science ®Google Scholar
• Segal BH, Barnhart LA, Anderson VL, Walsh TJ, Malech HL, Holland SM. Posaconazole as salvage therapy in patients with chronic granulomatous disease and invasive filamentous fungal infection. Clin. Infect. Dis. 40(11), 1684–1688 (2005).
   PubMed Web of Science ®Google Scholar
• Van Der Linden JW, Warris A, Verweij PE. Aspergillus species intrinsically resistant to antifungal agents. Med. Mycol. 49(Suppl.1), S82–S89 (2011).
   PubMedGoogle Scholar
• Seger RA. Advances in the diagnosis and treatment of chronic granulomatous disease. Curr. Opin. Hematol. 18, 36–41 (2011).
   PubMed Web of Science ®Google Scholar
• Yamazaki-Nakashimada MA, Stiehm ER, Pietropaolo-Cienfuegos D, Hernandez-Bautista V, Espinosa-Rosales F. Corticosteroid therapy for refractory infections in chronic granulomatous disease: case reports and review of the literature. Ann. Allergy Asthma Immunol. 97(2), 257–261 (2006).
   PubMed Web of Science ®Google Scholar
• Reichenbach J, Lopatin U, Mahlaoui N et al. Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen. Clin. Infect. Dis. 49(11), 1703–1710 (2009).
   PubMed Web of Science ®Google Scholar
• Smego RA Jr, Gallis HA. The clinical spectrum of Nocardia brasilensis infection in the United States. Rev. Infect. Dis. 6, 164–180 (1984).
   PubMedGoogle Scholar
• Frumkin A. Nocardial infections in Israel: a survey. Isr. J. Med. Sci. 25(6), 324–327 (1989).
   PubMedGoogle Scholar
• Greenberg DE, Goldberg JB, Stock F, Murray PR, Holland SM, Lipuma JJ. Recurrent Burkholderia infection in patients with chronic granulomatous disease: 11-year experience at a large referral center. Clin. Infect. Dis. 48(11), 1577–1579 (2009).
   PubMedGoogle Scholar
• Ameratunga R, Woon ST, Vyas J, Roberts S. Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency. Clin. Pediatr. (Phil.) 49(12), 1143–1146 (2010).
   PubMedGoogle Scholar
• Siddiqui S, Anderson VL, Hilligoss DM et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin. Infect. Dis. 45(6), 673–681 (2007).
   PubMed Web of Science ®Google Scholar
• Pogrebniak HW, Gallin JI, Malech HL et al. Surgical management of pulmonary infections in chronic granulomatous disease of childhood. Ann. Thorac. Surg. 55(4), 844–849 (1993).
   PubMedGoogle Scholar
• Greenberg DE, Ding L, Zelazny AM et al. A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease. PLoS Pathog. 2(4), e28 (2006).
   PubMedGoogle Scholar
• Greenberg DE, Shoffner AR, Zelazny AM et al. Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease. Emerging Infect. Dis. 16(9), 1341–1348 (2010).
   PubMedGoogle Scholar
• Lublin M, Bartlett DL, Danforth DN et al. Hepatic abscess in patients with chronic granulomatous disease. Ann. Surg. 235(3), 383–391 (2002).
   PubMed Web of Science ®Google Scholar
• Towbin AJ, Chaves I. Chronic granulomatous disease. Pediatr. Radiol. 40(5), 657–668; quiz 792 (2010).
   PubMedGoogle Scholar
• Leiding JW, Freeman AF, Marciano BE et al. Corticosteroid therapy for liver abscess in chronic granulomatous disease. Clin. Infect. Dis. 54(5), 694–700 (2012).
   PubMed Web of Science ®Google Scholar
• Dotis J, Roilides E. Osteomyelitis due to Aspergillus species in chronic granulomatous disease: an update of the literature. Mycoses 54(6), e686–e696 (2011).
   PubMed Web of Science ®Google Scholar
• Margolis DM, Melnick DA, Alling DW, Gallin JI. Trimethoprim–sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J. Infect. Dis. 162(3), 723–726 (1990).
   PubMed Web of Science ®Google Scholar
• Gallin JI, Alling DW, Malech AL et al. Itraconazole prophylaxis for fungal infections in chronic granulomatous disease of childhood. N. Engl. J. Med. 348, 2416–2422 (2003).
   PubMed Web of Science ®Google Scholar
• Cowen EW, Nguyen JC, Miller DD et al. Chronic phototoxicity and agrresive Squamous cell carcinoma of the skin in children and adults during treatment with voriconazole. J. Am. Acad. Dermatol. 62, 31–37 (2010).
   PubMed Web of Science ®Google Scholar
• Miller DD, Cowen EW, Nguyen JC, McCalmont TH, Fox LP. Melanoma associated with long-term voriconazole therapy: a new manifestation of chronic photosensitivity. Arch. Dermatol. 146, 300–304 (2010).
   PubMed Web of Science ®Google Scholar
• Rozenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J. Clin. Immunol. 28, S67–S72 (2008).
   PubMedGoogle Scholar
• Feld JJ, Hussain N, Wright EC et al. Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. Gastroenterology 134(7), 1917–1926 (2008).
   PubMedGoogle Scholar
• Marks DJ, Miyagi K, Rahman FZ, Novelli M, Bloom SL, Segal AW. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am. J. Gastroenterol. 104(1), 117–124 (2009).
   PubMed Web of Science ®Google Scholar
• Jürgens B, Fuchs D, Reichenbach J, Heitger A. Intact indoleamine 2,3-dioxygenase activity in human chronic granulomatous disease. Clin. Immunol. 137(1), 1–4 (2010).
   PubMedGoogle Scholar
• Meissner F, Seger RA, Moshous D, Fischer A, Reichenbach J, Zychlinsky A. Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood 116(9), 1570–1573 (2010).
   PubMedGoogle Scholar