תסמונת ויסקוט-אלדריץ
עודכן לאחרונה 4 אפריל 2023
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Wiskott-Aldrich syndrome is characterised by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterised by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.
תיאור
Wiskott-Aldrich syndrome is characterised by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterised by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.
Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of prolonged bleeding following nose bleeds or minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura, or variably sized rashes made up of tiny red spots called petechiae. In some cases, particularly if a bleeding episode occurs within the brain, prolonged bleeding can be life-threatening.
Wiskott-Aldrich syndrome is also characterised by abnormal or nonfunctional immune system cells known as white blood cells. Changes in white blood cells lead to an increased risk of several immune and inflammatory disorders in people with Wiskott-Aldrich syndrome. These immune problems vary in severity and include an increased susceptibility to infection from bacteria, viruses, and fungi. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, such as rheumatoid arthritis, vasculitis, or hemolytic anaemia. These disorder occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing certain types of cancer, such as cancer of the immune system cells (lymphoma), is also increased in people with Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome is often considered to be part of a disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms and the same genetic cause.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked. More than one pattern can apply in different cases.
Related genes
Other names
Eczema-thrombocytopenia-immunodeficiency syndrome
IMD2
Immunodeficiency 2
Wiskott syndrome
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קריאה נוספת והפניות
- תסמונת ויסקוט-אלדריץ; MedlinePlus, National Library of Medicine.
- Blundell MP, Worth A, Bouma G, Thrasher AJ. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function. Dis Markers. 2010;29(3-4):157-75. doi: 10.3233/DMA-2010-0735.
- Chandra S, Nagaraj CB, Sun M, Chandrakasan S, Zhang K. WAS-Related Disorders. 2004 Sep 30 [updated 2026 Feb 26]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1178/
- Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD. The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study. Eur J Pediatr. 2015 Oct;174(10):1311-8. doi: 10.1007/s00431-015-2527-3. Epub 2015 Apr 16.
- Gulacsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Toth B, Erdos M, van der Burg M, Marodi L; J Project Study Group. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. Mol Immunol. 2011 Feb;48(5):788-92. doi: 10.1016/j.molimm.2010.11.013. Epub 2010 Dec 24.
- Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008 Jan;15(1):30-6. doi: 10.1097/MOH.0b013e3282f30448.
- Thrasher AJ. New insights into the biology of Wiskott-Aldrich syndrome (WAS). Hematology Am Soc Hematol Educ Program. 2009:132-8. doi: 10.1182/asheducation-2009.1.132.
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