A case of Wiskott — Aldrich syndrome in an infant
https://doi.org/10.53529/2500-1175-2023-3-58-68
Abstract
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.
Supporting agencies: The authors express their gratitude to the staff «Rostov State Medical University» Dudareva M. V., Lazareva K. I., Mayorova E. V., Simonova A.V., Lukyanova E. A. for help in the work.
About the Authors
E. V. Churyukina
Rostov State Medical University; Kuban State Medical University
Russian Federation
Russian Federation
Ella Vitalievna Churyukina — Cand. Sci., Associate Professor, Leading scientific member (Immunology/Allergology), Head of Division for Allergic and Autoimmune diseases
344022, per. Nakhichevan, 29, Rostov-on-don
350063, Sedina str., 4, Krasnodar
E. V. Koreeva
Rostov clinical hospital
Russian Federation
Russian Federation
Elena Vyacheslavovna Koreeva — allergist-immunologist of the advisory department Rostov clinical hospital
344000, Pushkinskaya str., 127, Rostov-on-don
O. S. Selezneva
Regional children’s clinical hospital
Russian Federation
Russian Federation
Olga Sergeevna Selezneva — allergist-immunologist, Department of Pediatric Oncology and Hematology with chemotherapy
344015, 339 Rifle Division str., 14, Rostov-on-don
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Review
For citations:
Churyukina E.V., Koreeva E.V., Selezneva O.S. A case of Wiskott — Aldrich syndrome in an infant. Allergology and Immunology in Paediatrics. 2023;(3):58-68. (In Russ.) https://doi.org/10.53529/2500-1175-2023-3-58-68
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