Primary immunodeficiency diseases occur when a part of the body’s immune system is either missing or does not function correctly. These diseases are caused by intrinsic defects in the cells of the immune system and are often caused by inherited genetic defects, which mean that they are passed on from parents to their offspring.
In comparison to primary immunodeficiency diseases, the secondary immunodeficiency diseases such as acquired immunodeficiency syndrome are caused by infection with human immunodeficiency virus. Primary immunodeficiency diseases mainly lead to increased susceptibility to infection but they can cause other problems as well. These diseases could have varying effects from mild to serious. The serious forms are often noticeable at birth or shortly thereafter. However, very mild forms may become evident at a later stage in life such as adolescence or young adulthood. Although, the general category includes more than 100 diseases caused by an malfunctioning immune system but the World Health Organization only recognizes approximately 70 primary immune deficiency diseases that include X-linked Agammaglobulinemia (Bruton’s Disease), Common Variable Immune deficiency (Hypogammaglobulinemia), Selective IgA Deficiency and Severe Combined Immune Deficiency (boy-in-bubble disease).
The most common problem for people with primary immunodeficiency disease is that they are more prone to contract infections in comparison to others. The other problems include catching more severe, longer lasting and harder to cure infections; getting infected with germs that a healthy immune system would be able to get rid of, known as opportunistic infections and having autoimmune problems, which results in the immune system attacking the body’s own organs and tissues instead of germs and disease-causing materials. The treatment for primary immunodeficiency incorporates three stages. The first stage represents clearing the current infection, the second involves avoiding germs and preventing exposure to new infections and the final stage comprises of correcting the immunodeficiency. However, at times a single remedy does not work well for the treatment of primary immunodeficiency disorders. Therefore, treatment options can even be combined to make it more likely that primary immunodeficiency can be treated.
The Wiskott-Aldrich Syndrome (WAS) is a primary immune deficiency disease involving both T and B-lymphocytes. During this disorder, the blood platelets are also affected. This syndrome is characterized by an increased tendency to bleed caused by a reduced number of platelets, recurrent bacterial, viral and fungal infections and eczema of the skin. Patients suffering from WAS have a tendency of bleeding not only due to a reduced number of platelets but also because of the presence of smaller sized platelets than normal. The precise reasoning for the decreased platelet count is unknown but may include inefficient production of platelets by the bone marrow or increased removal of platelets by the spleen. An early indication of the disease could be hemorrhage following circumcision. The bleeding into the skin caused by the thrombocytopenia may cause pinhead sized red spots called petechiae, or may be larger and resemble bruises. Affected boys may also have bloody bowel movements, bleeding gums, prolonged nosebleeds and bleeding into the joints. A major complication may arise in the form of a brain hemorrhage. Three decades ago, Wiskott-Aldrich Syndrome stood out as one of the most severe primary immunodeficiency disorder with a life expectancy of only 2 to 3 years. Thanks to the progression in medical science, many patients today are leading a productive life.
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