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Chronic granulomatous disease (CGD) and other phagocytic cell disorders

Chronic granulomatous disease (CGD) is a type of primary immunodeficiency (PI) in which one group of the body’s white blood cells, called neutrophils, fail to make the hydrogen peroxide, bleach, and other chemicals needed to fight bacterial and fungal infections. As a result, patients with CGD have trouble preventing the start of infection. In an attempt to control infection, masses of neutrophils and other immune cells continue to gather at the site of infection, forming large groups of these cells called granulomas, hence the name of the disease. While small granulomas are microscopic in size, sometimes the granulomas get so large that they form “knots” of sufficient size to be felt and…

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 A Review of Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. Patients with CGD are at increased risk of life-threatening infections with catalase-positive bacteria and fungi and inflammatory complications such as CGD colitis.

Articles of Interest

Good early results with gene therapy for rare immune deficiency

In CGD, various mutations prevent neutrophils, white blood cells that ingest bacteria, fungi, and other microorganisms, from completing the final step: killing them. The gene therapy restores a healthy copy of gp91phox, part of a protein complex needed to kill the germs.

Inflammatory Complications in Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare inborn error of immunity that typically manifests with infectious complications. As the name suggest though, inflammatory complications are also common, often affecting the gastrointestinal, respiratory, urinary tracts and other tissues. These can be seen in all various types of CGD, from X-linked and autosomal recessive to X-linked carriers... Immunosuppressive treatment options are available, and our therapeutic armamentarium is expanding with the addition of various monoclonal antibodies. HSCT should also be considered in these patients, particularly in those with a more severe form of the disease.

What is Chronic Granulomatous Disease?

CGD is caused by defects in NADPH oxidase, a critical enzyme complex that normally generates highly reactive molecules needed by white blood cells to kill bacteria and other harmful microbes. Treatment of CGD has traditionally relied on aggressive prevention and control of infections with, for example, antibiotics, but does not serve as a curative treatment. Gene therapy offers a potential cure for CGD and is an area of focus for several researchers at the Li Weibo Institute for Rare Diseases Research.

Resources

Actimmune

This site is a resource for you to learn more about ACTIMMUNE, an immunomodulatory therapy for reducing the frequency and severity of serious infections associated with CGD.

CGD Connections

No one understands chronic granulomatous disease (CGD) like the people who live with it every day. CGD Connections provides practical advice and helpful tips from others with CGD. It's also your place to find information and options on managing CGD, as well as ongoing support from a dedicated team of people.

CGD Pathways

Because CGD is an inherited disorder, families of patients with CGD may benefit from DHR testing. Testing can help distinguish CGD subtype and identify carrier status.

CGD Society

To be the leading source of information and support for families and individuals affected by CGD in the UK and around the world, by sharing the learnings and expertise from patients and medical professionals who treat them.

American Academy of Allergy, Asthma & Immunology

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disease (PIDD) which increases the body’s susceptibility to infections caused by certain bacteria and fungi. Granulomas are masses of immune cells that form at sites of infection or inflammation.

NIAID

CGD is caused by defects in an enzyme, NADPH oxidase, that phagocytes need to kill certain bacteria and fungi. Mutations in one of five different genes can cause these defects. People with CGD are highly susceptible to infections caused by certain bacteria and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia species, and Aspergillus species. These people may develop abscesses (boils) in their lungs, liver, spleen, bones, or skin; and masses of cells, called granulomas, that can obstruct the bowel or urinary tract. In some people, granulomas can cause an inflammatory bowel disease similar to Crohn’s Disease. In addition, heart or kidney problems, diabetes, and autoimmune disease may occur in people with CGD, but this varies depending on which gene is mutated.