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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| Format: | Article |
| Language: | Russian |
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Association of Paediatric Allergists and Immunologists of Russia (APAIR)
2023-10-01
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| Series: | Аллергология и Иммунология в Педиатрии |
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| Online Access: | https://adair.elpub.ru/jour/article/view/99 |
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| author | E. V. Churyukina E. V. Koreeva O. S. Selezneva |
| author_facet | E. V. Churyukina E. V. Koreeva O. S. Selezneva |
| author_sort | E. V. Churyukina |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9f878cc00c4544e88c09ba93ee148c06 |
| institution | DOAJ |
| issn | 2500-1175 2712-7958 |
| language | Russian |
| publishDate | 2023-10-01 |
| publisher | Association of Paediatric Allergists and Immunologists of Russia (APAIR) |
| record_format | Article |
| series | Аллергология и Иммунология в Педиатрии |
| spelling | doaj-art-9f878cc00c4544e88c09ba93ee148c062025-08-20T02:49:04ZrusAssociation of Paediatric Allergists and Immunologists of Russia (APAIR)Аллергология и Иммунология в Педиатрии2500-11752712-79582023-10-0103586810.53529/2500-1175-2023-3-58-6894A case of Wiskott — Aldrich syndrome in an infantE. V. Churyukina0E. V. Koreeva1O. S. Selezneva2Rostov State Medical University; Kuban State Medical UniversityRostov clinical hospitalRegional children’s clinical hospitalWiskott — 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.https://adair.elpub.ru/jour/article/view/99immunodeficiencywiskott — aldrich syndromeatopic dermatitisthrombocytopeniaeczema |
| spellingShingle | E. V. Churyukina E. V. Koreeva O. S. Selezneva A case of Wiskott — Aldrich syndrome in an infant Аллергология и Иммунология в Педиатрии immunodeficiency wiskott — aldrich syndrome atopic dermatitis thrombocytopenia eczema |
| title | A case of Wiskott — Aldrich syndrome in an infant |
| title_full | A case of Wiskott — Aldrich syndrome in an infant |
| title_fullStr | A case of Wiskott — Aldrich syndrome in an infant |
| title_full_unstemmed | A case of Wiskott — Aldrich syndrome in an infant |
| title_short | A case of Wiskott — Aldrich syndrome in an infant |
| title_sort | case of wiskott aldrich syndrome in an infant |
| topic | immunodeficiency wiskott — aldrich syndrome atopic dermatitis thrombocytopenia eczema |
| url | https://adair.elpub.ru/jour/article/view/99 |
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