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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Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

Last Updated: 27 Aug 2015

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General Support Organizations

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How do you compare to others with this condition?

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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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Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

http://www.primaryimmune.org

Last Updated: 27 Aug 2015

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General Support Organizations

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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 406 free, full-text research articles on human participants. First 3 results:

CRISPR-mediated genotypic and phenotypic correction of a chronic granulomatous disease mutation in human iPS cells.
 

Author(s): Rowan Flynn, Alexander Grundmann, Peter Renz, Walther Hänseler, William S James, Sally A Cowley, Michael D Moore

Journal: Exp. Hematol.. 2015 Oct;43(10):838-848.e3.

 

Chronic granulomatous disease (CGD) is a rare genetic disease characterized by severe and persistent childhood infections. It is caused by the lack of an antipathogen oxidative burst, normally performed by phagocytic cells to contain and clear bacterial and fungal growth. Restoration ...

Last Updated: 3 Oct 2015

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[Clinical, genetic and molecular characterization of the X-linked chronic granulomatous disease. A case report of a new splicing mutation].
 

Author(s): Juan A López Q, Gabriel J Vélez T, Miguel Á Mendivil P

Journal: Rev Chil Pediatr. 2014 Apr;85(2):213-21.

 

Chronic granulomatous disease (CGD) is caused by mutations in the genes that encode five of the subunits of the human NADPH oxidase. The most common form is caused by mutations in CYBB, the human gene encoding gp 91 phox.

Last Updated: 20 Feb 2015

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Pioglitazone restores phagocyte mitochondrial oxidants and bactericidal capacity in chronic granulomatous disease.
 

Author(s): Ruby F Fernandez-Boyanapalli, S Courtney Frasch, Stacey M Thomas, Kenneth C Malcolm, Michael Nicks, Ronald J Harbeck, Claudia V Jakubzick, Raphael Nemenoff, Peter M Henson, Steven M Holland, Donna L Bratton

Journal: J. Allergy Clin. Immunol.. 2015 Feb;135(2):517-527.e12.

 

Deficient production of reactive oxygen species (ROS) by the phagocyte nicotinamide adenine dinucleotide (NADPH) oxidase in patients with chronic granulomatous disease (CGD) results in susceptibility to certain pathogens secondary to impaired oxidative killing and mobilization of ...

Last Updated: 9 Feb 2015

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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 35 free, full-text review articles on human participants. First 3 results:

Chronic granulomatous disease: why an inflammatory disease?
 

Author(s): P Roxo-Junior, H M L Simão

Journal: Braz. J. Med. Biol. Res.. 2014 Nov;47(11):924-8.

 

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions. Among the latter, inflammatory manifestations ...

Last Updated: 9 Oct 2014

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[A therapeutic approach towards chronic granulomatous disease].
 

Author(s): Toshinao Kawai

Journal: Nihon Rinsho Meneki Gakkai Kaishi. 2014 ;37(6):437-46.

 

Chronic granulomatous disease (CGD) is a primary immunodeficiency (PID) characterized by the inability of phagocytes to produce reactive oxygen intermediates (ROIs) due to a defect in the NADPH oxidase complex. Recent studies have revealed that ROIs are involved in inflammatory signaling ...

Last Updated: 9 Mar 2015

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[Ocular manifestations in chronic granulomatous disease].
 

Author(s): A Locatelli, M-C Béné, S Zuily, K Angioi-Duprez

Journal: J Fr Ophtalmol. 2013 Nov;36(9):789-95.

 

Chronic granulomatous disease (CGD) is a rare genetic immune deficiency due to defective oxygen metabolism in phagocytic cells. It results in recurrent severe bacterial and fungal infections in patients from an early age on. Inflammatory lesions are also observed, with the formation ...

Last Updated: 4 Nov 2013

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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

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

Status: Recruiting

Condition Summary: Chronic Granulomatous Disease

 

Last Updated: 21 Sep 2015

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Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995
 

Status: Recruiting

Condition Summary: Chronic Granulomatous Disease

 

Last Updated: 24 Sep 2015

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Haploidentical Transplant for People With Chronic Granulomatous Disease Using Post Transplant Cyclophosphamide
 

Status: Recruiting

Condition Summary: Chronic Granulomatous Disease

 

Last Updated: 6 Oct 2015

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