Immunodeficiency syndromes affect the ability of the individual’s immune system to resist infectious disease.
Wiscott-Aldrich Syndrome (WAS)
This syndrome affected Anthony Nolan. The extremely rare disorder comprises a combination of immunodeficiency, platelet abnormalities and eczematous skin lesions. It is inherited and only affects boys.
Severe Combined Immunodeficiency (SCID)
This covers a variety of rare inherited disorders which are characterised by an incomplete, or deficient, immune system, resulting from a deficiency in white blood cells. The symptoms of immune deficiency depend on what part of the immune system is affected and can range from mild to life-threatening. SCID can be successfully treated if it's identified early. Otherwise, it's often fatal within the first year. Although advances have occurred with antibiotic and antiviral therapies, the only curative treatment is a bone marrow transplant.
Aplastic anaemia
This is a rare and extremely serious blood disease, with just 120 - 250 new cases diagnosed in the UK each year. It shares some of the clinical features of leukaemia but progresses quite differently. Its cause is not clear, but the effect of the disease is to prevent the bone marrow’s ability to produce blood cells. This leads to anaemia, a tendency to infection and bleeding.
The disease may develop at any time, although it is more common in people in their teenage years, twenties and old age. It affects both men and women, although it seems to affect slightly more males than females.
Initial treatment focuses on the need to replace blood cells by blood transfusion which helps to prevent the patient acquiring infections. Although it may take several years, some patients recover as a result of this treatment alone. In severe cases this is unlikely and a second phase of treatment is used to assist the bone marrow recovery. It is here that a bone marrow transplant may be recommended.
Diamond Blackfan Anaemia (DBA)
Diamond Blackfan Anaemia is a rare congenital disorder affecting the production of red blood cells and occurs equally in men and women. Around a third of patients have physical abnormalities, often involving malformations of the thumbs, which means that diagnosis is frequently inside the first year.
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