A case of Wiskott - Aldrich syndrome in an infant
Wiskott - Aldrich syndrome (WAS) is a rare, X-linked combined disease with immunodeficiency caused by mutations in the WAS gene that encodes the WAS protein (WASp). Manifestations range from a relatively mild form of the disease (intermittent X-linked thrombocytopenia), characterized by thrombocytop...
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| Main Authors: | , , |
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| Format: | Book |
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Association of Paediatric Allergists and Immunologists of Russia (APAIR),
2023-10-01T00:00:00Z.
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| Summary: | Wiskott - Aldrich syndrome (WAS) is a rare, X-linked combined disease with immunodeficiency caused by mutations in the WAS gene that encodes the WAS protein (WASp). Manifestations range from a relatively mild form of the disease (intermittent X-linked thrombocytopenia), characterized by thrombocytopenia with or without minor immunodeficiency, to a severe form with deep immunodeficiency, episodes of bleeding, the development of autoimmunity and an increased risk of malignancy. Many patients have intermediate degrees of severity. It is precisely this heterogeneity in the clinical spectrum that makes it difficult to make a primary diagnosis of WAS. The article presents a clinical case of primary immunodeficiency detected in a 2-month-old child. |
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| Item Description: | 2500-1175 2712-7958 10.53529/2500-1175-2023-3-58-68 |