Chronic Granulomatous Disease

Common Name(s)

Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare, inherited, primary immune deficiency disorder that affects certain white blood cells. It is characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Symptoms usually begin in infancy or childhood and include life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones; swollen areas of inflamed tissues known as granulomas; and other symptoms. It is caused by mutations in any one of four different genes and is usually inherited in an autosomal recessive or X-linked recessive manner. Treatment consists of continuous antibiotic therapy to help prevent infections and corticosteroid drugs for treating granulomatous complications.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chronic Granulomatous Disease" for support, advocacy or research.

Caring Voice Coalition,Inc,

Caring Voice Coalition empowers patients who live with a life threatening chronic disease through comprehensive outreach programs and services aimed at financial, emotional and educational support. With a steadfast dedication to the organization’s set of core values, our knowledgeable, caring staff maintains our solid reputation as a dependable, responsive organization with a unique, holistic approach to improving the lives of our patients.

Last Updated: 29 Apr 2014

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Chronic Granulomatous Disease Association, Inc.

The Chronic Granulomatous Disease Association is an international support group for patients with CGD. We have a database of over 1,000 patients. Also, we have physician referrals, link CGD patients in close geographical proximity or with similar illnesses; a medical ref. library & many resources that CGD patients & parents are concerned about. We give grants for CGD research. Our website is www.cgdassociation.org cgda@socal.rr.com

Last Updated: 11 Feb 2013

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Chronic Granulomatous Disorder Society

The CGD Society is the leading source of support for individuals and families affected by chronic granulomatous disorder in the UK. The charity: - provides comprehensive information on chronic granulomatous disorder in the form of a website and publications - offers direct support to individuals and families via email and a helpline - funds a nursing support service that assists both patients and medical professionals requiring advice on the treatment of a patient affected by CGD

Last Updated: 15 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chronic Granulomatous Disease" for support, advocacy or research.

Caring Voice Coalition,Inc,

Caring Voice Coalition empowers patients who live with a life threatening chronic disease through comprehensive outreach programs and services aimed at financial, emotional and educational support. With a steadfast dedication to the organization’s set of core values, our knowledgeable, caring staff maintains our solid reputation as a dependable, responsive organization with a unique, holistic approach to improving the lives of our patients.

http://www.caringvoice.org

Last Updated: 29 Apr 2014

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Chronic Granulomatous Disease Association, Inc.

The Chronic Granulomatous Disease Association is an international support group for patients with CGD. We have a database of over 1,000 patients. Also, we have physician referrals, link CGD patients in close geographical proximity or with similar illnesses; a medical ref. library & many resources that CGD patients & parents are concerned about. We give grants for CGD research. Our website is www.cgdassociation.org cgda@socal.rr.com

http://www.cgdassociation.org

Last Updated: 11 Feb 2013

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Chronic Granulomatous Disorder Society

The CGD Society is the leading source of support for individuals and families affected by chronic granulomatous disorder in the UK. The charity: - provides comprehensive information on chronic granulomatous disorder in the form of a website and publications - offers direct support to individuals and families via email and a helpline - funds a nursing support service that assists both patients and medical professionals requiring advice on the treatment of a patient affected by CGD

http://www.cgdsociety.org

Last Updated: 15 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chronic Granulomatous Disease" returned 372 free, full-text research articles on human participants. First 3 results:

Chronic granulomatous disease presenting with ecthyma gangrenosum in a neonate.
 

Author(s): Brea Prindaville, Amy J Nopper, Hillary Lawrence, Kimberly A Horii

Journal: J. Am. Acad. Dermatol.. 2014 Aug;71(2):e44-5.

 

Last Updated: 19 Jul 2014

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IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans.
 

Author(s): Antonella de Luca, Sanne P Smeekens, Andrea Casagrande, Rossana Iannitti, Kara L Conway, Mark S Gresnigt, Jakob Begun, Theo S Plantinga, Leo A B Joosten, Jos W M van der Meer, Georgios Chamilos, Mihai G Netea, Ramnik J Xavier, Charles A Dinarello, Luigina Romani, Frank L van de Veerdonk

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Mar;111(9):3526-31.

 

Patients with chronic granulomatous disease (CGD) have a mutated NADPH complex resulting in defective production of reactive oxygen species; these patients can develop severe colitis and are highly susceptible to invasive fungal infection. In NADPH oxidase-deficient mice, autophagy ...

Last Updated: 5 Mar 2014

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[Diagnosis and carrier screening of X-linked chronic granulomatous disease by DHR 123 flow cytometry].
 

Author(s): Jian-Xin He, Qing-Qin Yin, Yue-Juan Tong, Xiu-Yun Liu, Bao-Ping Xu, Shun-Ying Zhao, Kun-Ling Shen, Zai-Fang Jiang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Jan;16(1):81-4.

 

Last Updated: 27 Jan 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chronic Granulomatous Disease" returned 25 free, full-text review articles on human participants. First 3 results:

Chronic granulomatous disease.
 

Author(s): Steven M Holland

Journal: Hematol. Oncol. Clin. North Am.. 2013 Feb;27(1):89-99, viii.

 

Chronic granulomatous disease (CGD) is a paradigm for nonlymphoid primary immune defects, and has guided elucidation of oxygen metabolism in the phagocyte, vasculature, and brain. It has been in the forefront of the development of antimicrobial prophylaxis before the advent of advanced ...

Last Updated: 28 Jan 2013

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[Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections].
 

Author(s): Anne Desjardins, Hélène Coignard-Biehler, Nizar Mahlaoui, Pierre Frange, Marie-Elisabeth Bougnoux, Stéphane Blanche, Alain Fischer, Sophie Blumental, Olivier Lortholary

Journal: Med Sci (Paris). 2012 Nov;28(11):963-9.

 

Chronic granulomatous disease is a genetic disorder responsible for a defect in the NADPH oxidase of phagocytic cells. It impairs the oxidative burst necessary to the intracellular inactivation of microorganisms and predisposes to an increased risk of infections by various microorganisms, ...

Last Updated: 22 Nov 2012

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Aspergillus nidulans and chronic granulomatous disease: a unique host-pathogen interaction.
 

Author(s): Stefanie S V Henriet, Paul E Verweij, Adilia Warris

Journal: J. Infect. Dis.. 2012 Oct;206(7):1128-37.

 

Invasive fungal infections are a major threat for patients suffering from chronic granulomatous disease (CGD), a primary immunodeficiency caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase. Interestingly, Aspergillus (Emericella) nidulans is the ...

Last Updated: 7 Sep 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease
 

Status: Recruiting

Condition Summary: Radiofrequency Ablation; Liver Abscesses -Staphylococcus Infection; CGD; Chronic Granulomatous Disease; RFA

 

Last Updated: 14 Mar 2014

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Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
 

Status: Recruiting

Condition Summary: IFN-Gamma Therapy; CGD Gene Mutation; CGD Response to IFNg; Chronic Granulomatous Disease; Immunodeficiency Disease

 

Last Updated: 14 Mar 2014

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Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease
 

Status: Recruiting

Condition Summary: Chronic Granulomatous Disease

 

Last Updated: 9 Sep 2014

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