Wiskott Aldrich Syndrome Final Powerpoint
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Jan. 21, 2010•0 likes•19,568 views
Wiskott Aldrich Syndrome Final Powerpoint
Jan. 21, 2010•0 likes•19,568 views
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My son had Wiskott Aldrich Syndrome (WAS). He had a bone marrow transplant in August 2006. His WAS is healed. This presentation was designed by some grad students. Some of the content is from my blog and it pictures my son, David. http://www.davidmcnally.blogspot.com
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Wiskott Aldrich Syndrome Final Powerpoint
- 1. Wiskott-Aldrich Syndrome Briana Kittredge Annette Stewart Tiffany Yu
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Editor's Notes
- Wiscott-Aldrich was first described by Alfred Wiskott in 1937. He Diagnosed three brothers who presented with thrombocytopenia, bloody diarrhea, eczema, and recurrent ear infection. These three brothers also died at an early age from intestinal bleeding and sepsis, associated with hemorrhagic disease and platelet dysfunction. Wiskott suggested hereditary thrombocytopenia, after describing three brothers who had the disease while their four sisters were not affected.
- In 1957, Aldrich further described the disease as an X-linked inherited disorder. In a study of six generations, he found that 16 of the 40 males died of the disease but NONE of the females
- Although rare, can occur in females. Happens only when one of the X-chromosome is inactive and the other carries the mutation.
- The whole cell line is affected. This includes your neutrophils, monocytes, baso- and eosinophil, lymphocytes, and platelets.
- High susceptibility to developing tumors and autoimmune manifestations. Immunodeficiency in newborns and toddlers are frequent. Recurrent bacterial infections such as ear infections are the most common.
- Hemorrhage – petechiae/purpura/oral bleeding (Mild bleeding under skin) to intestinal/intercranial bleeding Eczema – Abnormal priming of antigen specific T-cells in the skin, caused by defective chemotaxis of dendritic cells. Dendritic cells in skin (Langherhans) are APC, processing antigenic material and presenting to lymphocytes.
- Autoimmune disease associated with higher risk of developing tumors and increase risk of death. Usually have multiple autoimmune disorders simultaneously and can have a prognostic value. -i.e. AHA/autoimmune thrombocytopenia develops early (<180 days) after splenecotmy – poor prognosis. TUMORS – Usually in childhood but frequent in adolescence to adulthood. poor prognosis. <5% survive 2 years after diagnosis, results in up to 25% of deaths. Immune deficiency plays a role in tumor synthesis. NK cell function is defective as well as other alternations in immune serveillance.
- Early signs are directly related to the clinical triad. A study following 154 patients showed petechia/purpura in 78% of patience. Intercranial bleeding at birth or trauma.
- Infant begins to have infection involving all classes of microorganisms. Viral infections are unusually severe. Most common: Ear infection and pneumonia More severe but less common: Sepsis and meningitis. Gram neg – Klebsiella pneumonia and E. coli cause sepsis and meningitis. Intense scratching can also lead to infection.
- Due to wide spectrum of findings, it’s suspected in any boy presenting Unusual bleeding/bruising Thrombocytopenia Small platelets Characteristic WAS platelets can be seen in cord blood. This is the most useful for diagnosis >2 yr old immunologic abnormalities: Antibodies characterisiclly low or absent. Low level to blood group antigens (type A or B antigens) Vaccination: strep pneumonae
- This mutation results in a wide range of phenotypes. The unique family mutation means that each family has a characteristic mutation of the WASP gene. The role of WASP is complex and is evident in the wide range of disorders that stem from a mutation in the gene. Clinical symptoms vary from mild X-linked thrombocytopenia to the classic Wiskott-aldrich syndrome. This is only different clinical forms of the same disease because the underlying cause is still a mutation in the same gene. X-linked thrombocytopenia (XLT) is considered an attenuated version of WAS. Both it and intermitten thrombocytopenia are milder forms of the disease.