Affected boys may also have bloody bowel movements (especially during infancy), bleeding gums, and prolonged nose bleeds. Bleeding into the skin may cause pinhead sized bluish-red spots, called petechiae, or they may be larger and resemble bruises. As a result, patients with WAS may bleed easily, even if they have not had an injury. In addition to being decreased in number, the platelets themselves are small and dysfunctional, less than half the size of normal platelets. Thrombocytopenia (a reduced number of platelets) is a common feature of patients with WAS. (See chapter titled “ Autoimmunity in Primary Immunodeficiency.”) Bleeding Tendency In addition to this basic triad of symptoms, patients with WAS also have an increased risk of developing severe autoimmune disease and have an increased incidence of malignancy (cancer), particularly lymphoma or leukemia. Recurrent bacterial, viral and fungal infections.Increased tendency to bleed caused by a significantly reduced number of platelets.In its classic form, WAS is typically characterized by three basic clinical features: (See chapter titled “ Inheritance.”) In 1994, the gene that is defective in patients with WAS was discovered and this subsequently led to the understanding that milder forms of disease exist that have mutations in the same gene. Robert Aldrich, an American pediatrician, was able to clarify that the disease was passed down from generation to generation in an X-linked recessive manner. Seventeen years later, by studying a large six-generation Dutch family with boys who had similar symptoms to the patients described by Wiskott, Dr. Notably, their sisters did not have symptoms. All three subsequently died at an early age from complications of bleeding or infection. Alfred Wiskott, a German pediatrician who identified three brothers with low platelet counts (thrombocytopenia), bloody diarrhea, skin rash (eczema) and recurrent ear infections. Wiskott-Aldrich syndrome was first described in 1937 by Dr. Clinical Presentation of Wiskott-Aldrich Syndrome Milder forms of the disease that have some, but not all of the usual WAS symptoms, also exist, which can sometimes cause delays in making a correct diagnosis. For patients with WAS, this leads to unique health challenges that are not typically seen in other immunodeficiency disorders. The bleeding problems are the result of unusually small, dysfunctional platelets (blood cells that play an important role in the formation of blood clots). Wiskott-Aldrich syndrome (WAS) is unique among primary immunodeficiency diseases because, in addition to being susceptible to infections, patients have problems with abnormal bleeding.
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