Chronic granulomatous disease, x-linked

Common Name(s)

Chronic granulomatous disease, x-linked

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by {31:Dinauer et al., 2001} and {54:Johnston, 2001}). Genetic Heterogeneity of Chronic Granulomatous Disease Chronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD ({233690}), caused by mutation in the CYBA gene ({608508}); autosomal recessive cytochrome b-positive CGD type I ({233700}), caused by mutation in the NCF1 gene ({608512}); autosomal recessive cytochrome b-positive CGD II ({608515}), caused by mutation in the NCF2 gene ({608515}); and autosomal recessive cytochrome b-positive CGD type III ({613960}), caused by mutation in the NCF4 gene ({601488}). A similar syndrome, termed neutrophil immunodeficiency syndrome ({608203}), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 ({602049}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chronic granulomatous disease, x-linked" for support, advocacy or research.

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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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chronic granulomatous disease, x-linked" for support, advocacy or research.

Logo
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, x-linked" returned 0 free, full-text research articles on human participants.

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, x-linked" returned 0 free, full-text review articles on human participants.

 
 
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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

Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease
 

Status: Not yet recruiting

Condition Summary: Granulomatous Disease, Chronic, X-linked

 

Last Updated: 4 Sep 2014

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Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD)
 

Status: Recruiting

Condition Summary: X-Linked Chronic Granulomatous Disease

 

Last Updated: 10 Oct 2013

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Immune Disorder HSCT Protocol
 

Status: Recruiting

Condition Summary: Immune Deficiency Disorders:; Severe Combined Immunodeficiency; Chronic Granulomatous Disease; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Hyper-IgM; DiGeorge Syndrome; Chediak-Higashi Syndrome; Common Variable Immune Deficiency; Immune Dysregulatory Disorder:; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

 

Last Updated: 16 Apr 2014

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