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Recurrent Burkholderia cepacia infections

MedGen UID:
871196
Concept ID:
C4025673
Finding
HPO: HP:0002842

Definition

Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent Burkholderia cepacia infections

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

Anothaisintawee T, Harncharoenkul K, Poramathikul K, Phontham K, Boonyarangka P, Kuntawunginn W, Spring M, Boudreaux D, Livezey J, Chantratita N
PLoS Negl Trop Dis 2023 Jun;17(6):e0011382. Epub 2023 Jun 12 doi: 10.1371/journal.pntd.0011382. PMID: 37307278Free PMC Article
Sullivan RP, Marshall CS, Anstey NM, Ward L, Currie BJ
PLoS Negl Trop Dis 2020 Sep;14(9):e0008659. Epub 2020 Sep 28 doi: 10.1371/journal.pntd.0008659. PMID: 32986699Free PMC Article
Yap DY, Chan JF, Yip T, Mok MM, Kwan LP, Lo WK, Chan TM
Perit Dial Int 2016 Jul-Aug;36(4):390-4. Epub 2015 Oct 22 doi: 10.3747/pdi.2015.00122. PMID: 26493755Free PMC Article

Recent clinical studies

Etiology

Rhee C, Baker MA, Tucker R, Vaidya V, Holtzman M, Seethala RR, Bentain-Melanson M, Lenox J, Smith AR, Boyer JC, Gassett A, Brigl M, Sater M, Huntley M, Woolley AE, Goldberg HJ, Reilly K, Resnick A, Pearson M, Klompas M
Clin Infect Dis 2022 Oct 29;75(9):1610-1617. doi: 10.1093/cid/ciac200. PMID: 35271726
Yap DY, Chan JF, Yip T, Mok MM, Kwan LP, Lo WK, Chan TM
Perit Dial Int 2016 Jul-Aug;36(4):390-4. Epub 2015 Oct 22 doi: 10.3747/pdi.2015.00122. PMID: 26493755Free PMC Article
Limmathurotsakul D, Peacock SJ
Br Med Bull 2011;99:125-39. Epub 2011 May 9 doi: 10.1093/bmb/ldr007. PMID: 21558159
Sachdeva V, Pathengay A, Joseph J, Sharma S, Das T
Retina 2011 Oct;31(9):1801-5. doi: 10.1097/IAE.0b013e31820a6a03. PMID: 21478807
Puthucheary SD
Med J Malaysia 2009 Dec;64(4):266-74. PMID: 20954549

Diagnosis

Blanchard AC, Waters VJ
Semin Respir Crit Care Med 2019 Dec;40(6):727-736. Epub 2019 Dec 30 doi: 10.1055/s-0039-1698464. PMID: 31887768Free PMC Article
Roos D
Br Med Bull 2016 Jun;118(1):50-63. Epub 2016 Mar 16 doi: 10.1093/bmb/ldw009. PMID: 26983962Free PMC Article
Roos D, de Boer M
Clin Exp Immunol 2014 Feb;175(2):139-49. doi: 10.1111/cei.12202. PMID: 24016250Free PMC Article
Limmathurotsakul D, Peacock SJ
Br Med Bull 2011;99:125-39. Epub 2011 May 9 doi: 10.1093/bmb/ldr007. PMID: 21558159
Puthucheary SD
Med J Malaysia 2009 Dec;64(4):266-74. PMID: 20954549

Therapy

Rhee C, Baker MA, Tucker R, Vaidya V, Holtzman M, Seethala RR, Bentain-Melanson M, Lenox J, Smith AR, Boyer JC, Gassett A, Brigl M, Sater M, Huntley M, Woolley AE, Goldberg HJ, Reilly K, Resnick A, Pearson M, Klompas M
Clin Infect Dis 2022 Oct 29;75(9):1610-1617. doi: 10.1093/cid/ciac200. PMID: 35271726
Yap DY, Chan JF, Yip T, Mok MM, Kwan LP, Lo WK, Chan TM
Perit Dial Int 2016 Jul-Aug;36(4):390-4. Epub 2015 Oct 22 doi: 10.3747/pdi.2015.00122. PMID: 26493755Free PMC Article
Grassmé H, Riethmüller J, Gulbins E
Handb Exp Pharmacol 2013;(216):265-74. doi: 10.1007/978-3-7091-1511-4_13. PMID: 23563661
Limmathurotsakul D, Peacock SJ
Br Med Bull 2011;99:125-39. Epub 2011 May 9 doi: 10.1093/bmb/ldr007. PMID: 21558159
Sachdeva V, Pathengay A, Joseph J, Sharma S, Das T
Retina 2011 Oct;31(9):1801-5. doi: 10.1097/IAE.0b013e31820a6a03. PMID: 21478807

Prognosis

Thornton CS, Parkins MD
Semin Respir Crit Care Med 2023 Apr;44(2):269-286. Epub 2023 Jan 9 doi: 10.1055/s-0042-1758732. PMID: 36623820
Blanchard AC, Waters VJ
Semin Respir Crit Care Med 2019 Dec;40(6):727-736. Epub 2019 Dec 30 doi: 10.1055/s-0039-1698464. PMID: 31887768Free PMC Article
Roos D, de Boer M
Clin Exp Immunol 2014 Feb;175(2):139-49. doi: 10.1111/cei.12202. PMID: 24016250Free PMC Article
Grassmé H, Riethmüller J, Gulbins E
Handb Exp Pharmacol 2013;(216):265-74. doi: 10.1007/978-3-7091-1511-4_13. PMID: 23563661
Ben-Ari J, Wolach O, Gavrieli R, Wolach B
Expert Rev Anti Infect Ther 2012 Aug;10(8):881-94. doi: 10.1586/eri.12.77. PMID: 23030328

Clinical prediction guides

Rhee C, Baker MA, Tucker R, Vaidya V, Holtzman M, Seethala RR, Bentain-Melanson M, Lenox J, Smith AR, Boyer JC, Gassett A, Brigl M, Sater M, Huntley M, Woolley AE, Goldberg HJ, Reilly K, Resnick A, Pearson M, Klompas M
Clin Infect Dis 2022 Oct 29;75(9):1610-1617. doi: 10.1093/cid/ciac200. PMID: 35271726
Mesureur J, Feliciano JR, Wagner N, Gomes MC, Zhang L, Blanco-Gonzalez M, van der Vaart M, O'Callaghan D, Meijer AH, Vergunst AC
PLoS Pathog 2017 Jun;13(6):e1006437. Epub 2017 Jun 26 doi: 10.1371/journal.ppat.1006437. PMID: 28651010Free PMC Article
King J, Brunel SF, Warris A
J Infect 2016 Jul 5;72 Suppl:S50-5. Epub 2016 May 11 doi: 10.1016/j.jinf.2016.04.022. PMID: 27177733
Yap DY, Chan JF, Yip T, Mok MM, Kwan LP, Lo WK, Chan TM
Perit Dial Int 2016 Jul-Aug;36(4):390-4. Epub 2015 Oct 22 doi: 10.3747/pdi.2015.00122. PMID: 26493755Free PMC Article
Luong ML, Morrissey O, Husain S
Curr Opin Infect Dis 2010 Dec;23(6):578-83. doi: 10.1097/QCO.0b013e32833f9f93. PMID: 20847696

Recent systematic reviews

Anothaisintawee T, Harncharoenkul K, Poramathikul K, Phontham K, Boonyarangka P, Kuntawunginn W, Spring M, Boudreaux D, Livezey J, Chantratita N
PLoS Negl Trop Dis 2023 Jun;17(6):e0011382. Epub 2023 Jun 12 doi: 10.1371/journal.pntd.0011382. PMID: 37307278Free PMC Article

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