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Wiskott-Aldrich syndrome: causes, symptoms, diagnosis, treatment

Medical expert of the article

Pediatric immunologist
, medical expert
Last reviewed: 07.07.2025

Wiskott-Aldrich syndrome is characterized by impaired cooperation between B and T lymphocytes and is characterized by recurrent infections, atopic dermatitis, and thrombocytopenia.

It is an X-linked inherited disorder. Wiskott-Aldrich syndrome is caused by mutations in the gene encoding Wiskott-Aldrich syndrome protein (WASP), a cytoplasmic protein necessary for normal signaling between T and B lymphocytes. Due to dysfunction of T and B lymphocytes, patients develop infections caused by pyogenic bacteria and opportunistic organisms, especially viruses and Pneumocystis jiroveci (formerly P. carinii). The first manifestations may be hemorrhages (usually bloody diarrhea), then recurrent respiratory infections, eczema, thrombocytopenia. Malignancies, Epstein-Barr virus-associated lymphomas, and acute lymphoblastic leukemia develop in 10% of patients over 10 years of age.

The diagnosis is confirmed by detecting abnormal antibody production in response to polysaccharide antigens, cutaneous anergy, partial T-cell deficiency, elevated IgE and IgA, low IgM, and low or normal IgG. Partial defects in antibodies to polysaccharide antigens (e.g., to blood group A and B antigens) may be present. Platelets are small and defective, and their destruction in the spleen is increased, leading to thrombocytopenia. Mutation analysis may be used in diagnosis.

Treatment involves splenectomy, long-term antibiotic therapy, and HLA-identical bone marrow transplantation. Without transplantation, most patients die by age 15; however, some patients survive into adulthood.


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