Chronic Granulomatous Disease Differential Diagnoses
- Author: Roman Janusz Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD more...
Differential Diagnoses
- Acne Conglobata
- Acneiform Eruptions
- Aphthous Stomatitis
- Cancers of the Oral Mucosa
- Candidiasis, Chronic Mucocutaneous
- Candidiasis, Cutaneous
- Candidiasis, Mucosal
- Cheilitis Glandularis
- Childhood HIV Disease
- Coccidioidomycosis
- Common Variable Immunodeficiency
- Complement Receptor Deficiency
- Cutaneous Manifestations of HIV Disease
- Eosinophilic Pustular Folliculitis
- Folliculitis
- Gram-Negative Folliculitis
- Gram-Negative Toe Web Infection
- Impetigo
- Intertrigo
- Job Syndrome
- Paronychia
- Perifolliculitis Capitis Abscedens Et Suffodiens
- Sarcoidosis
- Seborrheic Dermatitis
- Wiskott-Aldrich Syndrome
Segal BH, Romani L, Puccetti P. Chronic granulomatous disease. Cell Mol Life Sci. Feb 2009;66(4):553-8. [Medline].
Hauck F, Heine S, Beier R, Wieczorek K, Müller D, Hahn G. 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. Dec 2008;30(12):877-80. [Medline].
Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR. Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). Blood. Aug 1 2000;96(3):1106-12. [Medline].
Jurkowska M, Bernatowska E, Bal J. Genetic and biochemical background of chronic granulomatous disease. Arch Immunol Ther Exp (Warsz). Mar-Apr 2004;52(2):113-20. [Medline].
Jurkowska M, Kurenko-Deptuch M, Bal J, Roos D. The search for a genetic defect in Polish patients with chronic granulomatous disease. Arch Immunol Ther Exp (Warsz). Nov-Dec 2004;52(6):441-6. [Medline].
Stasia MJ, Bordigoni P, Floret D, et al. Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. Hum Genet. Jan 2005;116(1-2):72-82. [Medline].
Noack D, Rae J, Cross AR, et al. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood. Jan 1 2001;97(1):305-11. [Medline].
Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). May 2000;79(3):170-200.
Ahlin A, De Boer M, Roos D, et al. Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden. Acta Paediatr. Dec 1995;84(12):1386-94. [Medline].
Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY. Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients. J Korean Med Sci. Apr 2004;19(2):218-22. [Medline].
Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. Dec 30 2010;363(27):2600-10. [Medline].
Lun A, Roesler J, Renz H. Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood. Clin Chem. May 2002;48(5):780-1. [Medline].
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. Jan 1 2005;105(1):61-6. [Medline].
Fijolek J, Wiatr E, Gawryluk D, Bestry I, Bernatowska E, Jablonski W. [Chronic granulomatous disease recognised in 42-years-old patient]. Pneumonol Alergol Pol. 2008;76(1):58-65. [Medline].
Carnide EG, Jacob CA, Castro AM, Pastorino AC. Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. Pediatr Allergy Immunol. Feb 2005;16(1):5-9. [Medline].
Chowdhury MM, Anstey A, Matthews CN. The dermatosis of chronic granulomatous disease. Clin Exp Dermatol. May 2000;25(3):190-4. [Medline].
Dohil M, Prendiville JS, Crawford RI, Speert DP. Cutaneous manifestations of chronic granulomatous disease. A report of four cases and review of the literature. J Am Acad Dermatol. Jun 1997;36(6 Pt 1):899-907. [Medline].
Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. Aug 2004;114(2):462-8. [Medline].
Johnston RB Jr. Clinical aspects of chronic granulomatous disease. Curr Opin Hematol. Jan 2001;8(1):17-22. [Medline].
Bylund J, Campsall PA, Ma RC, Conway BA, Speert DP. Burkholderia cenocepacia induces neutrophil necrosis in chronic granulomatous disease. J Immunol. Mar 15 2005;174(6):3562-9. [Medline].
Agudelo-Florez P, Lopez JA, Redher J, et al. The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease. Braz J Med Biol Res. May 2004;37(5):625-34. [Medline].
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. Aug 2006;97(2):257-61. [Medline].
Gallin JI, Alling DW, Malech HL, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. Jun 12 2003;348(24):2416-22. [Medline].
Marciano BE, Wesley R, De Carlo ES, et al. Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin Infect Dis. Sep 1 2004;39(5):692-9. [Medline].
Nunoi H, Ishibashi F, Mizukami T, Hidaka F. Clinical evaluation of interferon-gamma treatment to chronic granulomatous disease patients with splice site mutations. Jpn J Infect Dis. Oct 2004;57(5):S25-6. [Medline].
Wang J, Mayer L, Cunningham-Rundles C. Use of GM-CSF in the treatment of colitis associated with chronic granulomatous disease. J Allergy Clin Immunol. May 2005;115(5):1092-4. [Medline].
Martinez CA, Shah S, Shearer WT, Rosenblatt HM, Paul ME, Chinen J, et al. Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease. J Allergy Clin Immunol. Jan 2012;129(1):176-83. [Medline].
Horwitz ME, Barrett AJ, Brown MR, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med. Mar 22 2001;344(12):881-8. [Medline].
Seger RA, Gungor T, Belohradsky BH, et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood. Dec 15 2002;100(13):4344-50. [Medline].
Grez M, Becker S, Saulnier S, et al. Gene therapy of chronic granulomatous disease. Bone Marrow Transplant. May 2000;25 Suppl 2:S99-104. [Medline].
Kume A, Dinauer MC. Gene therapy for chronic granulomatous disease. J Lab Clin Med. Feb 2000;135(2):122-8. [Medline].
Malech HL, Choi U, Brenner S. Progress toward effective gene therapy for chronic granulomatous disease. Jpn J Infect Dis. Oct 2004;57(5):S27-8. [Medline].
Seger RA. Modern management of chronic granulomatous disease. Br J Haematol. Feb 2008;140(3):255-66. [Medline].
Assari T. Chronic Granulomatous Disease; fundamental stages in our understanding of CGD. Med Immunol. Sep 21 2006;5:4. [Medline]. [Full Text].
Carruthers JA, Greaves MW. Chronic granulomatous disease. Br J Dermatol. Jul 1976;95 Suppl 14:72-4. [Medline].
Curnutte JT. Chronic granulomatous disease: the solving of a clinical riddle at the molecular level. Clin Immunol Immunopathol. Jun 1993;67(3 Pt 2):S2-15. [Medline].
Curnutte JT. Recent advances in chronic granulomatous disease. Curr Opin Pediatr. 1990;2:907-15.
Goldblatt D, Thrasher AJ. Chronic granulomatous disease. Clin Exp Immunol. Oct 2000;122(1):1-9. [Medline].
Heyworth PG, Cross AR, Curnutte JT. Chronic granulomatous disease. Curr Opin Immunol. Oct 2003;15(5):578-84. [Medline].
Holland S, Seger R, Sullivan KE. The chronicles of chronic granulomatous disease. Clin Immunol. Aug 2005;116(2):99-100. [Medline].
Lekstrom-Himes JA, Kuhns DB, Alvord WG, Gallin JI. Inhibition of human neutrophil IL-8 production by hydrogen peroxide and dysregulation in chronic granulomatous disease. J Immunol. Jan 1 2005;174(1):411-7. [Medline].
Ma JS, Chen PY, Fu LS, et al. Chronic granulomatous disease: a case report. J Microbiol Immunol Infect. Jun 2000;33(2):118-22. [Medline].
Mallory SB, Leal-Khouri S. Chronic granulomatous disease. In: An Illustrated Dictionary of Dermatologic Syndromes. London, England: Parthenon; 1994:41.
Rosenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J Clin Immunol. May 2008;28 Suppl 1:S67-72. [Medline].
Westbroek W, Adams D, Huizing M, et al. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol. Nov 2007;127(11):2674-7. [Medline].
Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). May 2000;79(3):155-69. [Medline].

