Wiskott Aldrich Syndrome Research Paper

The liver becomes so diseased and damaged that it can no longer produce appropriate amounts of clotting factor and hormones to make platelets. “Vitamin K must be present in order for the liver to synthesize some of the clotting factors, including prothrombin, interleukin-6, multi-CSF, and fibrinogen.” p 664 If the blood is unable to clot then the patient will continue to bleed to the point that a liver transplant is necessary. Prothrombin a peptide hormone produced in the kidneys that accelerates platelet formation. Interleukin-6 is a hormone that stimulates platelet formation. Multi-CSF is a hormone that stimulates platelet production by promoting the formation and growth of megakaryocytes. p.660 If all of these hormones are

A person with a normal platelet count has between 150,000 to 450,000 per each microliter of blood in the body. With Thrombocytopenia, patients have platelet counts that are less than 150,000 per microliter of blood. Platelets help to promote blood clotting. When a person receives a cut, or injures themselves, platelets come to the site of injury and bind to damaged vessel, thus causing a blood clot and helping to stop the bleeding that accompanies the injury (Williams). However, with a reduced platelet count, this function can be impaired. Patients can easily bruise or bleed due to even a slight bump, as well as experience nosebleeds. Bleeding gums are another symptom of Thrombocytopenia (MDS Foundation). Based on symptoms, doctors might decide to test a patient for Myelodysplastic

Under Social Security Disability Insurance, immune system disorders are evaluated if it causes dysfunction in one or more components of your immune system. The dysfunction can be caused by a couple different things but, as the official Social Security Website, SSA.gov states, dysfunction often results due to problems in “antibody production, impaired cell-mediated immunity, a combined type of antibody/cellular deficiency, impaired phagocytosis, or complement deficiency.”

Epidermodysplasia verruciformis is one of the most defying horrific rare diseases in the world. Epidermodysplasia verruciformis is also called Lewandowsky-Lutz dysplasia, Lutz-Lewandowsky, and the tree man disease. Epidermodysplasia verruciformis is a recessive hereditary genetic skin disorder. Partial defects in cell-mediated immunity have been demonstrated in this disease. Numerous warts appear on the hands and feet sometimes all of the over the body. Certain people with this condition usually began to show symptoms between the ages of one through twenty. It usually gets worse when they become middle aged. There are different causes, diagnosis, cures, treatments and symptoms to epidermodysplasia verruciformis.

There are numerous forms of the disorder, and classification depends on what blood cells are affected and exactly how they are changed. Medical

Atypical HUS is a rare, chronic, life- threatening, complement mediated systemic disease. The complement system is also what we refer to as the immune system; lymphatic system. There have been cases in which aHUS has been frequently connected as a genetic component. Atypical HUS is caused by chronic uncontrolled complement activation, which is often characterized as Thrombotic Microangiopathy AKA TMA. Thrombotic Microangiopathy is a pattern of damage that occurs in the smallest blood vessels inside many of your vital organs affecting your kidneys and brain more commonly than other organs. Theoretically, if you were to perform a biopsy on a healthy patient's blood cells you will notice that they are round shaped with a pink color to them, around the blood

To understand autoimmune diseases, the general characteristic of autoimmunity must be addressed. Autoimmunity is defined, in short, as “ misdirected immune response”. A healthy person is equipped with the mechanisms necessary to defend the body from pathogens within the immune system. When autoimmunity is present in an individual, something within the immune system is

Many pathological conditions can be treated through the use of allogeneic transplants. An allogeneic transplant is when cells, tissues, or organs from a donor are placed into a recipient that is genetically different. Because the donor and recipient are not identical, it is possible for the graft to reject, which when there is an immune response against the graft. It is also possible for a more serious complication to occur, known as Graft-versus-host disease. Graft-versus-host disease typically occurs in cases of bone marrow or stem cell transplants, but it can also occur in other cases as well. In this condition, immune cells in the grafted tissue recognize the host body cells as foreign, and attack them. Normally, immune cells do not attack their own body cells due to cell proteins called human leukocyte antigens (HLA). Every person has a different HLA pattern, which makes allogeneic transplants more difficult. For a transplant to be successful,

Many people affected by Klinefelter syndrome are at high risk of many different health issues, but if these risks can be reduced if signs are caught and treated early. High risk autoimmune disorders, which are disorders in which the immune cells attack the body, include rheumatoid arthritis, hypothyroidisms, lupus, and type 1 diabetes. High risk venous diseases include varicose veins, deep vein thrombosis, and pulmonary embolisms. Since affected males have such a high risk of these venous diseases, they should pay close attention to their weight, follow an adequate diet, avoid smoking, and exercise regularly. Tooth decay is a problem with Klinefelter-affected males since they usually have taurodontism, which is when teeth have shorter roots,

Alpha-1 Antitrypsin Deficiency is an autosomal co-dominant condition in which the SERPINA1 gene, which lies on the chromosome 14, is replicated and the alpha-1 antitrypsin protein (which protects the body’s organs from neutrophil elastase) is underproduced which allows neutrophil elastase to damage perfectly healthy organs and tissue as it attempts to fight off infection. The two main organs that end up damaged are the liver and lungs. This deficiency lies on the Z allele, and can result in high risk for all symptoms. The S allele also represents a

Essential Thromboycythemia, also sometimes referred to as idiopathic thrombocythemia, essential thrombocytosis and ET, is a rare blood disorder. Those affected with this disorder produce too many blood platelets. Platelets also known as thrombocytes are colorless blood cells that aide in the stopping of bleeding when an injury has occurred. While the platelet counts in a person with ET are high the red and white blood cell counts of those individuals are generally normal. Occasionally one might have a slightly elevated number of white blood cells too. Often times symptoms of thrombocythemia will become apparent when a blood clot forms somewhere in the body. Increased number of platelets in the blood make the propensity to form a blood clot a huge risk. Symptoms of essential thrombocythemia are largely based on where a clot may have formed in the body. Some symptoms include but are not limited to: fatigue, headache, feelings of being lightheaded, noticeable changes in eyesight clarity, dizziness, chest pain, erythromelagia (redness, throbbing, or burnig in the hands and feet). Some less common symptoms may also include spontaneous

The bleeding occurs following trauma to the tissue this could be an overload of a tissue or even external force. One of the bodies first initial haemodynamic responses to bleeding is vasoconstriction which narrows the blood vessels causing decreased blood velocity, in 2008 (Watson) states that this is due to the release of noradrenaline(norepinephrine); the reaction last lasts only a few seconds to a minute. It is also explained by (Terkeltaub & Ginsberg, 1988) that both lymphatic and blood vessels are plugged to limit any fluid loss and platelet, aggregation is stimulated by the presence of thrombin. Vasoconstriction responds primarily to haemostasis which is a response to prevent blood loss and a platelet plug is formed to support the prevention of excessive

Lupus is a chronic inflammatory disease marked by its effect on various parts of the body, including the joints, skin, blood, and kidneys. It is a condition in which the body's immune system attacks its own cells and tissues, resulting in pain, inflammation, and often damage to organs. Lupus involves the immune system. The immune system makes antibodies that work to protect the body against foreign substances like viruses and bacteria. Such foreign bodies are called antigens. When a person has lupus, his or her body is unable to determine the difference between antigens and the individual's cells and body tissues. As such, the immune system creates antibodies against the individual's own tissues. These antibodies are called autoantibodies. Depending on the type of lupus, a wide range of symptoms may be experienced, from rashes, hair loss, and achy, swollen joints to fever, anemia, and abnormal blood clotting. Though the disease can affect many parts of the body, individuals usually experience symptoms in only a few organs. There is no known cure for lupus. However,

The mechanisms responsible of this effect are unknown. Previous studies highlighted a relationship between the number of regulatory T-cells (T-Regs) and the status of ITP activity and response to various treatments (steroids, rituximab, TPO-R agonists) suggesting a direct effect of platelets itself in modulating the immune system, inducing a possible auto-de-sensitizing phenomenon ( 30 , 31 )

After all the many investigations, researchers told that they don’t know the real cause for the ITP disorder. It is known that antibodies are produced in the spleen by the immune system. Antibodies attach to the platelets and make platelets destroy. The spleen is an abdominal organ which fight infection, recognizes the antibodies and removes the platelets from patients