chronic granulomatous disease

Summary

Summary: A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.

Top Publications

  1. Seger R. Modern management of chronic granulomatous disease. Br J Haematol. 2008;140:255-66 pubmed publisher
    b>Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytic cells resulting in failure to kill a characteristic spectrum of bacteria and fungi and in defective degradation of inflammatory mediators with ..
  2. Caksen H, Patiroglu T, Erol M, Poyrazoglu M. Recurrent multiple hepatic abscesses, hepatic calcification and congenital hearing loss in a child with chronic granulomatous disease. Acta Paediatr Taiwan. 2004;45:249-52 pubmed
    b>Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency in which phagocytes cannot destroy catalase-positive bacteria and fungi...
  3. Bylund J, MacDonald K, Brown K, Mydel P, Collins L, Hancock R, et al. Enhanced inflammatory responses of chronic granulomatous disease leukocytes involve ROS-independent activation of NF-kappa B. Eur J Immunol. 2007;37:1087-96 pubmed
    ..Curiously, patients with chronic granulomatous disease (CGD), an immunodeficiency characterized by an inability to produce ROS, are not only predisposed to ..
  4. Bhat S, Paterson D, Rinaldi M, Veldkamp P. Scedosporium prolificans brain abscess in a patient with chronic granulomatous disease: successful combination therapy with voriconazole and terbinafine. Scand J Infect Dis. 2007;39:87-90 pubmed
    A patient with chronic granulomatous disease developed brain abscesses with Scedosporium prolificans. In vitro susceptibility revealed a synergistic effect of terbinafine and voriconazole...
  5. Siddiqui S, Anderson V, Hilligoss D, Abinun M, Kuijpers T, Masur H, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis. 2007;45:673-81 pubmed
    b>Chronic granulomatous disease (CGD) is associated with multiple and recurrent infections...
  6. Boyanton B, Noroski L, Reddy H, Dishop M, Hicks M, Versalovic J, et al. Burkholderia gladioli osteomyelitis in association with chronic granulomatous disease: case report and review. Pediatr Infect Dis J. 2005;24:837-9 pubmed
    ..osteomyelitis and soft tissue abscess with Burkholderia gladioli in a 6-year-old Caucasian boy with chronic granulomatous disease. DNA sequencing of the 16S ribosomal RNA gene confirmed the bacterial identification...
  7. Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus Drobek M, Dagher M, et al. Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). Hum Mutat. 2010;31:151-8 pubmed publisher
    ..that impair expression or function of the components of the phagocyte NADPH oxidase complex cause chronic granulomatous disease (CGD), which is associated with life-threatening infections and dysregulated granulomatous ..
  8. Romani L, Fallarino F, De Luca A, Montagnoli C, D Angelo C, Zelante T, et al. Defective tryptophan catabolism underlies inflammation in mouse chronic granulomatous disease. Nature. 2008;451:211-5 pubmed publisher
    Half a century ago, chronic granulomatous disease (CGD) was first described as a disease fatally affecting the ability of children to survive infections...
  9. 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. 2005;105:61-6 pubmed
    Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys...

More Information

Publications62

  1. Marciano B, Rosenzweig S, Kleiner D, Anderson V, Darnell D, Anaya O Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114:462-8 pubmed
    b>Chronic granulomatous disease (CGD) is a rare disorder of phagocyte oxidative metabolism. In addition to infectious complications, granulomatous lesions often involve hollow viscera, especially the gastrointestinal (GI) tract...
  2. Heyworth P, Cross A, Curnutte J. Chronic granulomatous disease. Curr Opin Immunol. 2003;15:578-84 pubmed
    b>Chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is characterized by a greatly increased susceptibility to severe bacterial and fungal infections...
  3. Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol. 2008;126:155-64 pubmed
    A retrospective clinical and immunological survey was conducted in 60 patients with Chronic Granulomatous Disease. A prospective controlled non-randomized study of the efficacy of long-term IFNgamma treatment was carried out...
  4. Greenberg D, Goldberg J, Stock F, Murray P, Holland S, LiPuma J. Recurrent Burkholderia infection in patients with chronic granulomatous disease: 11-year experience at a large referral center. Clin Infect Dis. 2009;48:1577-9 pubmed publisher
    The epidemiology of Burkholderia infection in persons with chronic granulomatous disease is poorly understood...
  5. Kaltenis P, Mudeniené V, Maknavicius S, Seinin D. Renal amyloidosis in a child with chronic granulomatous disease and invasive aspergillosis. Pediatr Nephrol. 2008;23:831-4 pubmed publisher
    A boy who had been diagnosed with chronic granulomatous disease (CGD) at the age of 6.5 years had a medical history of multiple bacterial infections, including pneumonia, staphylococcal liver abscesses and septicemia, from birth...
  6. Lakshman R, Bruce S, Spencer D, Crawford D, Galloway A, Cooper P, et al. Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?. J Clin Pathol. 2005;58:1339-41 pubmed
    ..Postmortem microbiology and histopathology suggested an underlying diagnosis of chronic granulomatous disease. This was confirmed by neutrophil oxidative burst and gene mutation analysis of other family members, ..
  7. Zambrano E, Esper F, Rosenberg R, Kim J, Reyes Mugica M. Chronic granulomatous disease. Pediatr Dev Pathol. 2003;6:577-81 pubmed
  8. Rajakariar R, Newson J, Jackson E, Sawmynaden P, Smith A, Rahman F, et al. Nonresolving inflammation in gp91phox-/- mice, a model of human chronic granulomatous disease, has lower adenosine and cyclic adenosine 5'-monophosphate. J Immunol. 2009;182:3262-9 pubmed publisher
    In chronic granulomatous disease (CGD), there is failure to generate reactive oxygen metabolites, resulting in recurrent infections and persistent inflammatory events...
  9. Stasia M, Bordigoni P, Floret D, Brion J, Bost Bru C, Michel G, et al. Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. Hum Genet. 2005;116:72-82 pubmed
    b>Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and so cannot generate superoxide anions (O(2) (-))...
  10. Greenberg D, Ding L, Zelazny A, Stock F, Wong A, Anderson V, et al. A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease. PLoS Pathog. 2006;2:e28 pubmed
    b>Chronic granulomatous disease (CGD) is a rare inherited disease of the phagocyte NADPH oxidase system causing defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening ..
  11. Mamishi S, Parvaneh N, Salavati A, Abdollahzadeh S, Yeganeh M. Invasive aspergillosis in chronic granulomatous disease: report of 7 cases. Eur J Pediatr. 2007;166:83-4 pubmed
  12. Fujita M, Harada E, Matsumoto T, Mizuta Y, Ikegame S, Ouchi H, et al. Impaired host defence against Mycobacterium avium in mice with chronic granulomatous disease. Clin Exp Immunol. 2010;160:457-60 pubmed publisher
    Patients with chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, often contract recurrent life-threatening bacterial and fungal infections...
  13. Ramanuja S, Wolf K, Sadat M, Mahoney S, Dinauer M, Nelson R. Newly diagnosed chronic granulomatous disease in a 53-year-old woman with Crohn disease. Ann Allergy Asthma Immunol. 2005;95:204-9 pubmed
    b>Chronic granulomatous disease (CGD) is characterized by defective bactericidal activity of white blood cells, specifically, a defect in superoxide production...
  14. Jürgens B, Fuchs D, Reichenbach J, Heitger A. Intact indoleamine 2,3-dioxygenase activity in human chronic granulomatous disease. Clin Immunol. 2010;137:1-4 pubmed publisher
    b>Chronic granulomatous disease (CGD) is characterized by a disability to produce reactive oxygen intermediates (ROI) caused by a defect of phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase...
  15. Bukhari E, Alrabiaah A. First case of extensive spinal cord infection with Aspergillus nidulans in a child with chronic granulomatous disease. J Infect Dev Ctries. 2009;3:321-3 pubmed
    b>Chronic granulomatous disease (CGD) is characterized by a defect in phagocytic cells that lead to recurrent bacterial and fungal infections. The etiology of most common fungal infections in CGD are Aspergillus species...
  16. Segal B, Romani L. Invasive aspergillosis in chronic granulomatous disease. Med Mycol. 2009;47 Suppl 1:S282-90 pubmed publisher
    b>Chronic granulomatous disease (CGD) is an inherited disorder of the NADPH oxidase complex in which phagocytes are defective in generating superoxide anion and its metabolites...
  17. Hartl D, Lehmann N, Hoffmann F, Jansson A, Hector A, Notheis G, et al. Dysregulation of innate immune receptors on neutrophils in chronic granulomatous disease. J Allergy Clin Immunol. 2008;121:375-382.e9 pubmed
    b>Chronic granulomatous disease (CGD) is the most common inherited disorder of neutrophil function, is caused by mutations in the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, and results in recurrent bacterial ..
  18. D Angelo C, De Luca A, Zelante T, Bonifazi P, Moretti S, Giovannini G, et al. Exogenous pentraxin 3 restores antifungal resistance and restrains inflammation in murine chronic granulomatous disease. J Immunol. 2009;183:4609-18 pubmed publisher
    b>Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening bacterial and fungal infections and hyperinflammation...
  19. Greenberg D, Porcella S, Zelazny A, Virtaneva K, Sturdevant D, Kupko J, et al. Genome sequence analysis of the emerging human pathogenic acetic acid bacterium Granulibacter bethesdensis. J Bacteriol. 2007;189:8727-36 pubmed
    b>Chronic granulomatous disease (CGD) is an inherited immune deficiency characterized by increased susceptibility to infection with Staphylococcus, certain gram-negative bacteria, and fungi...
  20. Goebel W, Pech N, Dinauer M. Stable long-term gene correction with low-dose radiation conditioning in murine X-linked chronic granulomatous disease. Blood Cells Mol Dis. 2004;33:365-71 pubmed
    ..conditioning to permit engraftment of transduced long-term repopulating cells in murine X-linked chronic granulomatous disease (X-CGD), which closely mimics the human disease...
  21. Goebel W, Pech N, Meyers J, Srour E, Yoder M, Dinauer M. A murine model of antimetabolite-based, submyeloablative conditioning for bone marrow transplantation: biologic insights and potential applications. Exp Hematol. 2004;32:1255-64 pubmed
    ..C57Bl/6 or X-linked chronic granulomatous disease (X-CGD) mice were administered 5-FU (150 mg/kg) on days -5 and -1...
  22. Weinberg J, Alexander B, Majure J, Williams L, Kim J, Vandamme P, et al. Burkholderia glumae infection in an infant with chronic granulomatous disease. J Clin Microbiol. 2007;45:662-5 pubmed
    ..a necrotic lung mass from which Burkholderia glumae was recovered, leading to the diagnosis of chronic granulomatous disease (CGD)...
  23. Ott M, Seger R, Stein S, Siler U, Hoelzer D, Grez M. Advances in the treatment of Chronic Granulomatous Disease by gene therapy. Curr Gene Ther. 2007;7:155-61 pubmed
    ..Here we review the developments leading to a gene therapy approach for the treatment of Chronic Granulomatous Disease (CGD), a primary life threatening immunodeficiency caused by a defect in the oxidative antimicrobial ..
  24. Ma J, Chen P, Lau Y, Chi C. Brain abscess caused by Salmonella enterica subspecies houtenae in a patient with chronic granulomatous disease. J Microbiol Immunol Infect. 2003;36:282-4 pubmed
    A 44-month-old boy with chronic granulomatous disease has been suffering from fever and skin rash for 7 days prior to admission. The blood culture obtained on admission revealed Salmonella enterica subspecies houtenae...
  25. Köker M, Sanal O, de Boer M, Tezcan I, Metin A, Tan C, et al. Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. Eur J Clin Invest. 2006;36:257-64 pubmed
    b>Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes...
  26. Zelazny A, Ding L, Elloumi H, Brinster L, Benedetti F, Czapiga M, et al. Virulence and cellular interactions of Burkholderia multivorans in chronic granulomatous disease. Infect Immun. 2009;77:4337-44 pubmed publisher
    b>Chronic granulomatous disease (CGD) patients are susceptible to life-threatening infections by the Burkholderia cepacia complex...
  27. Jones L, McGrogan P, Flood T, Gennery A, Morton L, Thrasher A, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008;152:211-8 pubmed publisher
    There are no epidemiological studies from the British Isles of chronic granulomatous disease, characterized by recurrent, life-threatening bacterial and fungal infections and inflammatory sequelae...
  28. Al Tawfiq J, Al Abdely H. Vertebral osteomyelitis due to Aspergillus fumigatus in a patient with chronic granulomatous disease successfully treated with antifungal agents and interferon-gamma. Med Mycol. 2010;48:537-41 pubmed publisher
    ..involving the cervical and thoracic vertebrae and upper mediastinum of a 17 year-old Saudi male with chronic granulomatous disease (CGD)...
  29. Oh H, Park J, Lee W, Yoo S, Yang J, Oh S. Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients. J Korean Med Sci. 2004;19:218-22 pubmed
    b>Chronic granulomatous disease (CGD) is a fatal genetic disorder in which phagocytes fail to produce antimicrobial superoxide because of NADPH oxidase deficiency...
  30. Gallin J, Alling D, Malech H, Wesley R, Koziol D, Marciano B, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. 2003;348:2416-22 pubmed
    b>Chronic granulomatous disease is a rare disorder in which the phagocytes fail to produce hydrogen peroxide. The patients are predisposed to bacterial and fungal infections...
  31. Lee P, Chan K, Jiang L, Chen T, Li C, Lee T, 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. 2008;27:224-30 pubmed publisher
    b>Chronic granulomatous disease (CGD) is a rare disorder of phagocytic oxidative bursts leading to recurrent pyogenic infections...
  32. Rump A, Rosen Wolff A, Gahr M, Seidenberg J, Roos C, Walter L, et al. A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD). Gene. 2006;371:174-81 pubmed
    b>Chronic granulomatous disease (CGD) is caused by a defect in both the host's defenses and its regulation of inflammation normally provided by phagocytes and other leukocytes...
  33. Reichenbach J, Lopatin U, Mahlaoui N, Beovic B, Siler U, Zbinden R, et al. Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen. Clin Infect Dis. 2009;49:1703-10 pubmed publisher
    b>Chronic granulomatous disease (CGD) is a rare inherited disease of the phagocyte NADPH oxidase system that causes defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening ..
  34. Mauch L, Lun A, O Gorman M, Harris J, Schulze I, Zychlinsky A, et al. 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. 2007;53:890-6 pubmed
    The flow cytometric dihydrorhodamine 123 (DHR) assay is used as a screening test for chronic granulomatous disease (CGD), but complete myeloperoxidase (MPO) deficiency can also lead to a strongly decreased DHR signal...
  35. Hill H, Augustine N, Pryor R, Reed G, Bagnato J, Tebo A, et al. Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting. J Mol Diagn. 2010;12:368-76 pubmed publisher
    High-resolution melting analysis was applied to X-linked chronic granulomatous disease, a rare disorder resulting from mutations in CYBB...
  36. Pastorino A, Menezes U, Marques H, Vallada M, Cappellozi V, Carnide E, et al. Acremonium kiliense infection in a child with chronic granulomatous disease. Braz J Infect Dis. 2005;9:529-34 pubmed
    ..child with pneumonia caused by the fungus Acremonium kiliense as the first clinical manifestation of chronic granulomatous disease. We emphasize the importance of an active search for unusual organisms in immunodeficient patients, ..
  37. Moltyaner Y, Geerts W, Chamberlain D, Heyworth P, Noack D, Rae J, et al. Underlying chronic granulomatous disease in a patient with bronchocentric granulomatosis. Thorax. 2003;58:1096-8 pubmed
    ..A family history of chronic granulomatous disease prompted further testing that demonstrated severely depressed neutrophil oxidant production and gp91(..
  38. Fang F. Antimicrobial reactive oxygen and nitrogen species: concepts and controversies. Nat Rev Microbiol. 2004;2:820-32 pubmed
    ..This review updates the reader on these concepts and the topical questions in the field. ..
  39. Elloumi H, Holland S. Diagnostic assays for chronic granulomatous disease and other neutrophil disorders. Methods Mol Biol. 2007;412:505-23 pubmed publisher
    ..Herein, we describe methods to identify chronic granulomatous disease (CGD), leukocyte adhesion deficiency (LAD), and neutropenia...
  40. Al Khuwaitir T, Madani T, Al Qahtani T, Al Tuwaijri A. Chronic granulomatous disease with recurrent hepatic abscesses in an adult. Saudi Med J. 2007;28:1593-6 pubmed
    b>Chronic granulomatous disease CGD is a condition of inability to deal with bacterial and fungal infections, due to defective respiratory burst in neutrophils leading to recurrent cutaneous and visceral infections...
  41. Di Matteo G, Giordani L, Finocchi A, Ventura A, Chiriaco M, Blancato J, et al. Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. Mol Immunol. 2009;46:1935-41 pubmed publisher
    b>Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which phagocytes fail to produce antimicrobial superoxide because NADPH oxidase activity is absent...
  42. Yamazaki Nakashimada M, Ramírez Vargas N, de Rubens Figueroa J. Chronic granulomatous disease associated with atypical Kawasaki disease. Pediatr Cardiol. 2008;29:169-71 pubmed
    b>Chronic granulomatous disease (CGD) is an infrequent inherited disorder characterized by recurrent infections and abnormal granuloma formation...
  43. Sadat M, Pech N, Saulnier S, Leroy B, Hossle J, Grez M, et al. Long-term high-level reconstitution of NADPH oxidase activity in murine X-linked chronic granulomatous disease using a bicistronic vector expressing gp91phox and a Delta LNGFR cell surface marker. Hum Gene Ther. 2003;14:651-66 pubmed
    A murine model of X-linked chronic granulomatous disease (X-CGD), an inherited immune deficiency with absent phagocyte NADPH oxidase activity caused by defects in the gp91(phox) gene, was used to evaluate a bicistronic retroviral vector ..
  44. Galluzzo M, Hernandez C, Davila M, Perez L, Oleastro M, Zelazko M, et al. Clinical and histopathological features and a unique spectrum of organisms significantly associated with chronic granulomatous disease osteomyelitis during childhood. Clin Infect Dis. 2008;46:745-9 pubmed publisher
    ..clinical, microbiologic, and histopathologic findings significantly associated with osteomyelitis in chronic granulomatous disease. When present, these features should raise the suspicion of underlying chronic granulomatous disease...
  45. Alsultan A, Williams M, Lubner S, Goldman F. Chronic granulomatous disease presenting with disseminated intracranial aspergillosis. Pediatr Blood Cancer. 2006;47:107-10 pubmed
    ..with multiple unresectable aspergillus brain abscesses as the initial presentation of X-linked chronic granulomatous disease (CGD). He failed initial therapy with amphotericin B, but was subsequently salvaged with voriconazole...
  46. Bylund J, Campsall P, Ma R, Conway B, Speert D. Burkholderia cenocepacia induces neutrophil necrosis in chronic granulomatous disease. J Immunol. 2005;174:3562-9 pubmed
    Burkholderia cepacia complex is a life-threatening group of pathogens for patients with chronic granulomatous disease (CGD), whose phagocytes are unable to produce reactive oxygen species (ROS). Unlike other CGD pathogens, B...
  47. Bianchi M, Hakkim A, Brinkmann V, Siler U, Seger R, Zychlinsky A, et al. Restoration of NET formation by gene therapy in CGD controls aspergillosis. Blood. 2009;114:2619-22 pubmed publisher
    b>Chronic granulomatous disease (CGD) patients have impaired nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function, resulting in poor antimicrobial activity of neutrophils, including the inability to generate neutrophil ..
  48. Marks D, Miyagi K, Rahman F, Novelli M, Bloom S, Segal A. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease. Am J Gastroenterol. 2009;104:117-24 pubmed publisher
    Patients with chronic granulomatous disease (CGD), a rare congenital disorder characterized by defective neutrophil function, frequently develop an inflammatory bowel disease similar to Crohn's disease...
  49. Yu G, Hong D, Dionis K, Rae J, Heyworth P, Curnutte J, et al. Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. Clin Immunol. 2008;128:117-26 pubmed publisher
    b>Chronic granulomatous disease (CGD) is a primary immunodeficiency of defective neutrophil oxidative burst activity due to mutations in the genes CYBA, NCF-1, NCF-2, and CYBB, which respectively encode the p22-phox, p47-phox, p67-phox, ..
  50. Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D, et al. Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. Br J Haematol. 2008;141:848-51 pubmed publisher
    One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing...
  51. Roos D, Kuhns D, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis. 2010;44:291-9 pubmed publisher
    b>Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase...
  52. Rosen Wolff A, Koch A, Friedrich W, Hahn G, Gahr M, Roesler J. Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease. Pediatr Infect Dis J. 2004;23:584-6 pubmed
    b>Chronic granulomatous disease is an inherited defect in host defense mechanisms mainly affecting neutrophil function...
  53. Wang S, Shieh C, Liu C. Successful treatment of Paecilomyces variotii splenic abscesses: a rare complication in a previously unrecognized chronic granulomatous disease child. Diagn Microbiol Infect Dis. 2005;53:149-52 pubmed
    ..splenic abscesses caused by Paecilomyces variotii in a 21-month-old child with previously undiagnosed chronic granulomatous disease (CGD) is described. An X-linked form of CGD with deficiency of gp91-phox was diagnosed...