Chronic Granulomatous Disorder (CGD) is a rare, inherited disorder of the immune system that affects 1 in 250,000 people. The basic defect lies in phagocytic cells which are made in the bone marrow (neutrophils and monocytes). These fail to effectively destroy certain invading bacteria and fungi. Affected individuals are therefore susceptible to serious bacterial and fungal infection. They also experience symptoms associated with chronic inflammation, often granulomatous in nature.

Infections may occur as abscesses in lymph glands. Other sites of infection include bones and joints, the liver, the bowels, the lungs and skin. However, individuals with the condition are able to combat viral infection normally.

Most CGD patients should be on daily antibacterial and antifungal prophylaxis (preventive drug therapy).

CGD can be diagnosed by a simple blood test. If CGD is suspected it is important that referral is made to a specialist centre and diagnostic tests carried out in a laboratory that is familiar with doing these tests on a regular basis.

Bone marrow transplantation is a curative treatment option for some patients, but requires a fully matched donor. New treatments based on gene therapy are also being developed.

Early diagnosis and treatment of the symptoms with appropriate antibiotics as well as lifelong antibiotic and antifungal prophylaxis, has greatly mitigated the effects of this condition.

In conjunction with Great Ormond Street Hospital, the CGD Research Trust has established a CGD Registry, the first comprehensive collection of information on CGD, which includes information about patients from the UK and Europe.

Inheritance patterns
X-linked and autosomal recessive inheritance. Genetic advice is available.

Prenatal diagnosis
This is possible where the mother is a known carrier of the disease.

Medical text written February 2006 by the CGD Research Trust. Approved February 2006 by Dr W Qasim, Specialist Registrar and Clinical Lecturer in Immunology, Institute of Child Health, London, UK.

CGD RESEARCH TRUST

CGD Research Trust
Manor Farm
Wimborne St. Giles
Wimborne
BH21 5NL
Tel: 01725 517977
e-mail: cgd@cgdrt.co.uk
Web: http://www.cgd.org.uk

The Trust is a National Registered Charity No. 1003425, established in 1991 to raise money and boost funds to find improved treatments and a cure for this rare genetic blood disorder, as well as to improve support services. It offers support and a point of contact between families. It funds a clinical nurse specialist based at Great Ormond Street Children's Hospital, London and it is about to employ a second specialist nurse based in the North of England. It is planning a clinical psychology service for families. The Trust runs conferences and workshops for health professionals and holds fun days and get-togethers for affected individuals and their families. It has twice yearly newsletters and has information available, details on request. The Trust is in touch with approximately 185 families. The CGD RT is the founder member of the annual Jeans for Genes Campaign.

Group details last updated February 2007.