Chronic granulomatous disease caused by a deficiency in p47 phox mimicking Crohn's disease

Clinical Gastroenterology and Hepatology

Volumn 2, Issue 8, 2004, Pages 690-695

  Huang, Jeannie S ^a   Noack, Deborah ^c   Rae, Julie ^d   Ellis, Beverly A ^c   Newbury, Robert ^b   Pong, Alice L ^b   Lavine, Joel E ^a   Curnutte, John T ^e   Bastian, John ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d Intermune ^*  (United States)

^e MERCK RESEARCH LABORATORIES   (United States)

Author keywords

ANCA; anti Saccharomyces cerevisiae antibody; antinuclear cytoplasmic autoantibody; ASCA; central nervous system; CGD; chronic granulomatous disease; CNS; DHR; dihydrorhodamine; NADPH; NCF 1; reduced form of nicotinamide adenine dinucleotide

Indexed keywords

COTRIMOXAZOLE; IMMUNOSUPPRESSIVE AGENT; INFLIXIMAB; MERCAPTOPURINE; PROTEIN P47; PROTEIN SUBUNIT; SALAZOSULFAPYRIDINE; STEROID; TACROLIMUS;

ADOLESCENT; ARTICLE; ASPERGILLOSIS; ASPERGILLUS NIDULANS; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN BIOPSY; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; CROHN DISEASE; ENTERITIS; FEMALE; HUMAN; IMMUNE DEFICIENCY; OPPORTUNISTIC INFECTION; PHAGOCYTE; PROTEIN DEFICIENCY; SCHOOL CHILD; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CHILD; CROHN DISEASE; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INTESTINAL DISEASES; MUTATION; NADPH OXIDASE; PHOSPHOPROTEINS;

EID: 3543023938     PISSN: 15423565     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1542-3565(04)00292-7     Document Type: Article

References (21)

1. Woodman R.C., Newburger P.E., Anklesaria P., Erickson R.W., Rae J., Cohen M.S., Curnutte J.T. A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells. Blood. 85:1995;231-241
2. Noack D., Rae J., Cross A.R., Ellis B.A., Newburger P.E., Curnutte J.T., Heyworth P.G. 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. 97:2001;305-311
3. Heyworth P.G., Noack D., Cross A.R. Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion significance for A47 degrees chronic granulomatous disease carrier detection. Blood. 100:2002;1845-1851
4. Schappi M.G., Smith V.V., Goldblatt K., Lindle K.J., Milla P.J. Colitis in chronic granulomatous disease. Arch Dis Child. 84:2001;147-151
5. Isaacs D., Wright V.M., Shaw D.G., Raafat F., Walker-Smith J.A. A chronic granulomatous disease mimicking Crohn's disease. J Pediatr Gastroenterol Nutr. 4:1985;498-501
6. Stevens D.A., Kan V.L., Judson M.A., Morrison V.A., Dummer S., Denning D.W., Bennett J.E., Walsh T.J., Patterson T.F., Pankey G.A. Practice guidelines for disease caused by Aspergillus. Clin Infect Dis. 30:2000;696-709
7. Winkelstein J.A., Marino M.C., Jonston R.B., Boyle J., Curnutte J., Gallin J.I., Malech H.L., Holland S.M., Ochs H., Quie P., Buckley R.H., Foster C.B., Chanock S.J., Dickler H. Chronic granulomatous disease report on a national registry of 368 patients. Medicine. 79:2000;155-169
8. Martinez A.J. The neuropathology of organ transplantation comparison and contrast in 500 patients. Pathol Res Pract. 194:1998;473-486
9. Lorf T., Braun F., Ruchel R., Muller A., Sattler B., Ringe B. Systemic mycoses during prophylactic use of liposomal amphotericin B (Ambisome) after liver transplantation. Mycoses. 42:1999;47-53
10. Quinton J.F., Sendid B., Reumaux D., Duthilleul P., Cortot A., Grandbastien P., Charrier G., Targan S.R., Columbel J.F., Poulian D. Anti-Saccharomyces cerevisiae mannan antibodies combined with antineutrophil cytoplasmic autoantibodies in inflammatory bowel disease prevalence and diagnostic role. Gut. 42:1998;788-791
11. Damoiseaux J.G., Bouten B., Linders A.M., Austen J., Roozendaal C., Russe M.G., Forget P.P., Tervaert J.W. Diagnostic value of anti-Saccharomyces cerevisiae and antineutrophil cytoplasmic antibodies for inflammatory bowel disease high prevalence in patients with celiac disease. J Clin Immunol. 22:2002;281-288
12. Fiocchi C., Hilfiker M.L., Youngman K.R., Doerder N.C., Finke J.H. Interleukin 2 activity of human intestinal mucosa mononuclear cells decreased levels in inflammatory bowel disease. Gastroenterology. 86:1984;734-742
13. Strober W., James S.P. The immunologic basis of inflammatory bowel disease. J Clin Immunol. 6:1986;415-432
14. Ogura Y., Bonen D.K., Inohara N., Nicolae D.L., Chen F.F., Ramos R., Britton H., Moran T., Karaliuskas R., Duerr R.H., Achkar J.P., Brant S.R., Bayless T.M., Kirschner B.S., Hanauer S.B., Nunez G., Cho J.H. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 411:2001;603-606
15. Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., Almer S., Tysk C., O'Morain C.A., Gassull M., Binder V., Finkel Y., Cortot A., Modigliani R., Laurent-Puig P., Gower-Rousseau C., Macry J., Colombel J.F., Sahbatou M., Thomas G. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 411:2001;599-603
16. Cuthbert A.P., Fisher S.A., Mirza M.M., King K., Hampe J., Croucher P.J.P., Mascheretti S., Sanderson J., Forbes A., Mansfield J., Schreiber S., Lewis C.M., Mathew C.G. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology. 122:2002;867-874
17. Bridges R.A., Berendes H., Good R.A. A fatal granulomatous disease of childhood the clinical, pathological, and laboratory features of a new syndrome. J Dis Child AMA. 97:1959;387-408
18. Landing B.H., Shirkey H.S. A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes. Pediatrics. 20:1957;431-438
19. Jirapongsananuruk O., Malech H.L., Kuhns D.B., Niemela J.E., Brown M.R., Anderson-Cohen M., Fleisher T.A. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol. 111:2003;374-379
20. Margolis D.M., Melnick D.A., Alling D.W., Gallin J.I. Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis. 162:1990;723-726
21. International Chronic Granulomatous Disease Cooperative Study Group. A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med. 324:1991;509-516