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Decreased activity of NADPH oxidase

MedGen UID:
336679
Concept ID:
C1844394
Finding
HPO: HP:0003206

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased activity of NADPH oxidase

Conditions with this feature

Granulomatous disease, chronic, X-linked
MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
MedGen UID:
383869
Concept ID:
C1856245
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
MedGen UID:
341102
Concept ID:
C1856251
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
MedGen UID:
383872
Concept ID:
C1856255
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.

Professional guidelines

PubMed

Li M, Ren C
BMC Complement Med Ther 2022 Oct 3;22(1):257. doi: 10.1186/s12906-022-03738-3. PMID: 36192741Free PMC Article
McCarty MF, Barroso-Aranda J, Contreras F
Med Hypotheses 2007;69(3):489-96. Epub 2007 May 14 doi: 10.1016/j.mehy.2006.12.065. PMID: 17502128
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J Hypertens 2005 Dec;23(12):2287-96. doi: 10.1097/01.hjh.0000188731.75592.eb. PMID: 16269971

Recent clinical studies

Etiology

Cooper KL, Volk LB, Dominguez DR, Duran AD, Ke Jian Liu KJ, Hudson LG
Toxicol Appl Pharmacol 2022 Jan 1;434:115799. Epub 2021 Nov 16 doi: 10.1016/j.taap.2021.115799. PMID: 34798142Free PMC Article
Spencer NY, Stanton RC
Curr Opin Nephrol Hypertens 2017 Jan;26(1):43-49. doi: 10.1097/MNH.0000000000000294. PMID: 27755120
Risbano MG, Gladwin MT
Handb Exp Pharmacol 2013;218:315-49. doi: 10.1007/978-3-642-38664-0_13. PMID: 24092346
Song P, Zou MH
Free Radic Biol Med 2012 May 1;52(9):1607-19. Epub 2012 Feb 4 doi: 10.1016/j.freeradbiomed.2012.01.025. PMID: 22357101Free PMC Article
Mladenka P, Zatloukalová L, Filipský T, Hrdina R
Free Radic Biol Med 2010 Sep 15;49(6):963-75. Epub 2010 Jun 11 doi: 10.1016/j.freeradbiomed.2010.06.010. PMID: 20542108

Diagnosis

Pilania RK, Rawat A, Shandilya J, Arora K, Gupta A, Saikia B, Sharma M, Kaur G, Singh S
Pediatr Res 2022 Dec;92(6):1535-1542. Epub 2022 Apr 12 doi: 10.1038/s41390-022-02055-2. PMID: 35414669
Zielonka J, Zielonka M, VerPlank L, Cheng G, Hardy M, Ouari O, Ayhan MM, Podsiadły R, Sikora A, Lambeth JD, Kalyanaraman B
J Biol Chem 2016 Mar 25;291(13):7029-44. Epub 2016 Feb 2 doi: 10.1074/jbc.M115.702787. PMID: 26839313Free PMC Article
Steinbrenner H
Free Radic Biol Med 2013 Dec;65:1538-1547. Epub 2013 Jul 18 doi: 10.1016/j.freeradbiomed.2013.07.016. PMID: 23872396
Song P, Zou MH
Free Radic Biol Med 2012 May 1;52(9):1607-19. Epub 2012 Feb 4 doi: 10.1016/j.freeradbiomed.2012.01.025. PMID: 22357101Free PMC Article
Lang F, Ullrich S, Gulbins E
Expert Opin Ther Targets 2011 Sep;15(9):1061-71. Epub 2011 Jun 2 doi: 10.1517/14728222.2011.588209. PMID: 21635197

Therapy

Yu T, Wan P, Zhu XD, Ren YP, Wang C, Yan RW, Guo Y, Bai AP
Biochem Pharmacol 2018 Dec;158:126-133. Epub 2018 Oct 13 doi: 10.1016/j.bcp.2018.10.010. PMID: 30321511
Risbano MG, Gladwin MT
Handb Exp Pharmacol 2013;218:315-49. doi: 10.1007/978-3-642-38664-0_13. PMID: 24092346
Chen AF, Chen DD, Daiber A, Faraci FM, Li H, Rembold CM, Laher I
Clin Sci (Lond) 2012 Jul;123(2):73-91. doi: 10.1042/CS20110562. PMID: 22455351
Ronis MJ, Mercer K, Chen JR
Curr Osteoporos Rep 2011 Jun;9(2):53-9. doi: 10.1007/s11914-011-0049-0. PMID: 21360285Free PMC Article
Mladenka P, Zatloukalová L, Filipský T, Hrdina R
Free Radic Biol Med 2010 Sep 15;49(6):963-75. Epub 2010 Jun 11 doi: 10.1016/j.freeradbiomed.2010.06.010. PMID: 20542108

Prognosis

Yuan Z, Guo G, Sun G, Li Q, Wang L, Qiao B
Bioengineered 2022 Apr;13(4):7986-7999. doi: 10.1080/21655979.2022.2031677. PMID: 35293283Free PMC Article
Speranza L, Franceschelli S, Riccioni G
Molecules 2012 Apr 30;17(5):4924-35. doi: 10.3390/molecules17054924. PMID: 22547315Free PMC Article
Tousoulis D, Briasoulis A, Papageorgiou N, Tsioufis C, Tsiamis E, Toutouzas K, Stefanadis C
Recent Pat Cardiovasc Drug Discov 2011 May;6(2):103-14. doi: 10.2174/157489011795933819. PMID: 21513492
Adams V, Linke A, Kränkel N, Erbs S, Gielen S, Möbius-Winkler S, Gummert JF, Mohr FW, Schuler G, Hambrecht R
Circulation 2005 Feb 8;111(5):555-62. doi: 10.1161/01.CIR.0000154560.88933.7E. PMID: 15699275
Modlinger PS, Wilcox CS, Aslam S
Semin Nephrol 2004 Jul;24(4):354-65. doi: 10.1016/j.semnephrol.2004.04.007. PMID: 15252775

Clinical prediction guides

Reskiawan A Kadir R, Alwjwaj M, Ahmad Othman O, Rakkar K, Sprigg N, Bath PM, Bayraktutan U
Brain Res 2022 Jul 15;1787:147925. Epub 2022 Apr 22 doi: 10.1016/j.brainres.2022.147925. PMID: 35469846
Geng L, Zhao J, Deng Y, Molano I, Xu X, Xu L, Ruiz P, Li Q, Feng X, Zhang M, Tan W, Kamen DL, Bae SC, Gilkeson GS, Sun L, Tsao BP
Ann Rheum Dis 2022 Feb;81(2):255-267. Epub 2021 Sep 23 doi: 10.1136/annrheumdis-2021-220793. PMID: 34556485
Savla SR, Laddha AP, Kulkarni YA
Drug Metab Rev 2021 Nov;53(4):542-562. Epub 2021 Mar 10 doi: 10.1080/03602532.2021.1895203. PMID: 33689526
Sampaio TL, Menezes RRPPB, Lima DB, Costa Silva RA, de Azevedo IEP, Magalhães EP, Marinho MM, Dos Santos RP, Martins AMC
Eur J Pharmacol 2019 Jul 15;855:1-9. Epub 2019 Apr 29 doi: 10.1016/j.ejphar.2019.04.044. PMID: 31047876
Sawada M, Imamura K, Nagatsu T
J Neural Transm Suppl 2006;(70):373-81. doi: 10.1007/978-3-211-45295-0_57. PMID: 17017556

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