Immunodeficiency

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Bare Lymphocyte Syndrome and the future of treatment using stem cell therapies

What is Bare Lymphocyte Syndrome? Bare Lymphocyte Syndrome is a rare, severe combined immunodeficiency disease (SCID). People with the condition suffer from frequent and severe bacterial, viral or fungal infections which can result in complications or may even be fatal. Bare Lymphocyte Syndrome is a deficiency in a part of the immune system that helps the body identity and fight infections, called major histocompatibility complex (MHC) class I and class II proteins. Severe combined immunodeficiency diseases are a group of primary immunodeficiencies, each with its own specific genetic cause…

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Leukocyte Adhesion Deficiency and the future of stem cell treatment for primary immunodeficiencies

What is Leukocyte Adhesion Deficiency? Leukocyte Adhesion Deficiency (LAD) is a group of rare, inherited primary immunodeficiency syndromes. Children with the disease suffer frequent bacterial and fungal infections from birth. It is characterised by the impaired ability of white blood cells (leukocytes) to respond normally and travel to the site of infection or injury. People with Leukocyte Adhesion Deficiency contract frequent infections. Their blood cells are unable ward them off normally. There are three types of the disease: LAD I, LAD II and LAD III. LAD I is the most common type. There…

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Wiskott-Aldrich Syndrome and the future of treatment using stem cell and gene therapies

What is Wiskott-Aldrich Syndrome? Wiskott-Aldrich Syndrome is an inherited immunodeficiency disease mostly affecting males. It is characterised by eczema, recurrent infections and excessive bleeding or bruising. The bleeding and bruises result from microthrombocytopenia, decreased number and size of the platelets responsible for blood clotting. After an injury, bruising and bleeding can be life-threatening. People with Wiskott-Aldrich Syndrome also have abnormal white blood cells, resulting in an impaired immune system and recurrent, opportunistic infections. Autoimmune disease occurs in up…

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Omenn Syndrome and treatment using stem cell therapies

What is Omenn Syndrome? Omenn Syndrome is a severe combined immunodeficiency disease (SCID). People with the condition have an impaired immune system, leaving them open to infection. SCIDs are primary immunodeficiencies, each with its own specific genetic cause, that manifest with similar symptoms, including immune system malfunction and a defective antibody response. In all cases of SCID, specialised white blood cells, called lymphocytes, responsible for making antibodies, are missing or don’t function normally. The three types of lymphocytes that can be affected are T-cells, B-cells and…

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Chronic Granulomatous Disease and stem cell therapy for primary immunodeficiencies

What is Chronic Granulomatous Disease? Chronic Granulomatous Disease is a primary immunodeficiency disease characterised by recurrent and life-threatening bacterial and fungal infections, combined with areas of inflammation, known as granulomas, that can lead to severe tissue damage. Also known as Bridges-Good syndrome, Chronic Granulomatous Disease causes a subset of white blood cells called phagocytes (neutrophils and macrophages) to be incapable of killing certain bacteria and fungi. Usually, phagocytes engulf and disable pathogens in a process called phagocytosis. This is achieved by a…

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Reticular Dysgenesis and stem cell therapy for Severe Combined Immunodeficiencies

What is Reticular Dysgenesis? Reticular Dysgenesis is the most serious form of Severe Combined Immunodeficiency (SCID), a rare genetic disorder known as “bubble baby” syndrome because sufferers have severely limited immune systems, leaving them vulnerable to infection. Reticular Dysgenesis is characterised by agranulocytosis, a dangerous deficiency of infection-fighting white blood cells. People with the disease are deficient in B and T-cell antibodies. They may also have a form of hearing loss called sensorineural deafness. The names given to the different types of SCID come from the protein…

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Myelodysplastic Syndrome and the future of stem cell therapies for older people

What is Myelodysplastic Syndrome? Myelodysplastic Syndrome, otherwise known as refractory anaemia, is a blood and bone marrow cancer characterised by defective blood cells. The bone marrow cells are abnormal and immature, meaning they have difficulty making new blood cells. Red blood cells, white blood cells and platelets can all be affected. Because defective blood cells die more quickly than healthy ones, a lack of normal blood cells (in most cases red blood cells) in circulation leads to anaemia. A third of patients go onto to develop a cancer of the white blood cells called Acute Myeloid…

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DiGeorge Syndrome: the future of stem cell therapy for the genetic primary immunodeficiency disease

What is DiGeorge Syndrome? DiGeorge syndrome is a genetic primary immunodeficiency disease caused by the deletion of some genes on chromosome 22, affecting around one in every 5,000 babies. The outcome for patients can be vastly different depending on which genes are missing. Although DiGeorge is an inherited disorder (if one parent has DiGeorge there is a 50% chance of passing it onto a child), more than 90% of cases are due to spontaneous mutations — which means there is no family history. In some cases the symptoms of DiGeorge syndrome are minimal and a patient may not be diagnosed until…

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SCID with the absence of T and B cells: how stem cell treatments are transforming outcomes for 'bubble baby' syndrome

What is SCID with the absence of T and B cells? Severe combined immunodeficiency (SCID), or “bubble baby” syndrome, is a rare genetic disorder. Sufferers have severely limited immune systems, leaving them unable to fight viruses or bacterial infections that would be minor in most people. There are various types of SCID with their own specific cause and symptoms. SCID with the absence of T and B-cells is a subtype of SCID. It is a group of disorders characterised by a lack of certain types of white blood cell, known as T and B cells. T cells are made in a gland called the thymus; while B…

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Duncan's Disease and treatment using stem cell therapies

What is Duncan's Disease? Duncan’s Disease is a rare inherited immunodeficiency disorder where the sufferer has an extreme susceptibility and reaction to infection by the Epstein-Barr virus. Also known as “X-linked lymphoproliferative disease”, it is characterised by immune system malfunction and a defective antibody response. This occurs because the white blood cells, or lymphocytes, do not function normally. Lymphocytes protect the body by making antibodies or by attacking infected cells directly. They are B-cells, T-cells or NK-cells. B-cells fight viruses and bacteria by secreting…

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