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Wiskott-Aldrich Syndrome Analysis
515 Words2 Pages
Recommended: Aids and other immunodeficiency
Immunodeficiency diseases are any diseases that cause an absence or inadequate immune response. They usually effect the immune cells, T-cells, B-cells, complement cells, or phagocytes. Immunodeficiency disease can cause many complications in the body. The compromise of the immune system can eventually lead to death if it is not treated promptly and correctly. A rare immunodeficiency disease that can lead to death is Wiskott-Aldrich Syndrome. Wiskott-Aldrich Syndrome is a disease that deals with a mutation of the white blood cells. Typically it is usually the T- and B-cells, but it can also deal with platelets. The mutation of the white blood cells are caused by a mutation in the X-linked trait (Fraizer, 2012, p. 141). This mutation effects
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Deletion
1025 Words | 3 PagesThe size of the terminal deletion may vary from a subtle 1.4Mb to a classic 30Mb [5]. Earlier genotype-phenotype correlation studies reveal that the main characteristic feature of WHS - the ‘Greek warrior helmet face’, is caused due to the hemizygosity of the WHSC1 gene located in the WHS critical region (WHSCR).[5] Various other genes are also located in the WHSCR which are responsible for most other phenotypic features. More precisely, the Wolf-Hirschhorn syndrome critical region (WHSCR) is located at 4p16.3 region. Approximately 25% of the patients with WHS deletion in this region are not detectable by cytogenetic karyotyping [6]. Hence, FISH has to be performed.
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