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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Bibliographic Details
Published in:	Allergologiâ i immunologiâ v pediatrii no. 3; pp. 58 - 68
Main Authors:	Churyukina, E. V., Koreeva, E. V., Selezneva, O. S.
Format:	Journal Article
Language:	English Russian
Published:	Association of Paediatric Allergists and Immunologists of Russia (APAIR) 09-10-2023
Subjects:	atopic dermatitis eczema immunodeficiency thrombocytopenia wiskott — aldrich syndrome
Online Access:	Get full text
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Description
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.
ISSN:	2500-1175 2712-7958
DOI:	10.53529/2500-1175-2023-3-58-68