Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections and to immune and inflammatory disorders; and an increased risk for some cancers (such as lymphoma). Also, a skin condition known as eczema is common in people with WAS.[8632][14136] Wiskott Aldrich syndrome is caused by mutations in the WAS gene and is inherited in an X-linked manner.[8631] It primarily affects males. Treatment may depend on severity and symptoms in each person, but hematopoietic cell transplantation is the only known cure.[8632] Hematopoietic cells are the blood-forming stem cells that can be found mainly in the sponge-like material found inside bones (bone marrow), but also in the bloodstream (peripheral blood stem cells (PBSCs), and in the umbilical cord.[14137] Prognosis have improved over time due to better management of the disease. People who have a successful and uncomplicated hematopoeitic cell transplantation, usually have normal immune function and, normal survival.[14135]
Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN) are known as “WAS-related disorders” because these diseases are all caused by mutations in the WAS gene, and have overlapping symptoms ranging from severe to mild (Wiskott-Aldrich syndrome is the most severe). The WAS gene mutations result in deficiency of the Wiskott-Aldrich syndrome protein (WASP). The more deficient the WASP, the more severe the disease.[8632]
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