Wiskott Aldrich syndrome is a syndrome that contains various conditions resulting from a mutation in WAS gene. Mutation in WAS gene results in a deficiency in WASP protein then platelet count starts decreasing. That is called thrombocytopenia. This disease is of immunological deficiency and reduced ability to form blood clots.
- In this disease, the problems like bloody diarrhea, recurrent infections, scaling, itchy skin rashes (eczema), the appearance of small purple spots on the skin (petechia) and also Pneumocystis carinii pneumonia (PCP) and intracranial bleeding conditions cause life-threatening conditions to occur.
- Also, there are latter possibilities of the destruction of red blood cells (hemolytic anemia), arthritis, vasculitis, and kidney and liver damage. And some individuals have an increased risk of developing lymphomas after exposure to the Epstein-Barr virus.
- WAS gene provides instruction to make a protein called WASP, and this protein is found in blood cells and works to help the immune system work properly.
- Now, a lack of WASP function causes disrupts the function of the acting cytoskeleton in developing blood cells. That results in less response of white blood cells to foreign particles or invaders, and then the problem starts rising.
- This disease is inherited in an X-linked pattern. In which X-linked if the mutated gene that causes the disorder is located on the X chromosome, in one of the two sex chromosomes, males only have one X – chromosome in each cell, and so it is sufficient to cause of this disease to men. Females have two copies of X- chromosomes.
- One altered copy of this gene in each cell causes fewer features of the condition or may cause no signs or symptoms.
Frequent and easy bleeding that can occur from the nose, mouth and gums, in bowel movements,Frequent and easy bruising,A small red rash consisting of “dots” under the skin (these are called petechiae),Chronic infections,Eczema (atopic dermatitis)
Bleeding,Pneumonia,Eczema (atopic dermatitis),Chronic, bloody diarrhea,Ear and sinus infections,Viral infections like herpes,Cytomegalovirus (CMV) and Epstein-Barr virus (EBV)
Antibiotics, antifungal or antiviral medications,Vaccinations