Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Campos A, Bell D, et al. Wiskott-Aldrich syndrome. Reference article, Radiopaedia.org (Accessed on 19 Feb 2025) https://doi.org/10.53347/rID-41754
Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency disease.
The incidence quoted is approximately 4 per million live male births, although there can be regional variation. Rarely occurs in females.
Associations
It has a characteristic phenotype that includes:
petechiae, bloody diarrhea and epistaxis due to thrombocytopenia with small platelets
eczema that starts in the first month of life
recurrent infections with encapsulated bacteria due to immunodeficiency
increased incidence of autoimmune manifestations and malignancies (e.g. primary CNS lymphoma)
The pathophysiology relates to structural mutation with defective actin polymerization in hematopoietic cells as a result of deficient or dysregulated activity of the Wiskott-Aldrich syndrome protein (WASp) which has multiple functions. There is a poor antibody response to polysaccharide antigens. Low IgM, but high IgA and IgE levels.
Genetics
It is mostly an X-linked recessive condition.
Treatment and prognosis
The severity of the disease is variable and can be predictable from the genotype to a certain degree. Bone marrow transplantation may be the only definitive treatment 5.
History and etymology
It was originally described by Wiskott in 1937 as a triad of ear discharge, eczema and thrombocytopenia. The genetics, i.e. X-linked recessive disorder, were described by Aldrich 7 in 1954.
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1. Loan W, McCune K, Kelly B et-al. Wiskott-Aldrich syndrome: life-threatening haemorrhage from aneurysms within the liver, small bowel mesentery and kidney, requiring both surgical and radiological intervention. J R Coll Surg Edinb. 2000;45 (5): 326-8. Pubmed citation
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2. Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr. Opin. Hematol. 2008;15 (1): 30-6. doi:10.1097/MOH.0b013e3282f30448 - Pubmed citation
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3. Abinun M, Mikuska M, Filipović B. Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome. Eur. J. Pediatr. 1988;147 (5): 518-9. Pubmed citation
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4. McCluggage WG, Armstrong DJ, Maxwell RJ et-al. Systemic vasculitis and aneurysm formation in the Wiskott-Aldrich syndrome. J. Clin. Pathol. 1999;52 (5): 390-2. Free text at pubmed - Pubmed citation
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5. Akman IO, Ostrov BE, Neudorf S. Autoimmune manifestations of the Wiskott-Aldrich syndrome. Semin. Arthritis Rheum. 1998;27 (4): 218-25. Pubmed citation
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6. Thrasher AJ. New insights into the biology of Wiskott-Aldrich syndrome (WAS). Hematology Am Soc Hematol Educ Program. 2009;2009 (1): 132-8. doi:10.1182/asheducation-2009.1.132 - Pubmed citation
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7. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 13 (2): 133-9. Pubmed
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8. Lutskiy MI, Sasahara Y, Kenney DM, Rosen FS, Remold-O'Donnell E. Wiskott-Aldrich syndrome in a female. (2002) Blood. 100 (8): 2763-8. doi:10.1182/blood-2002-02-0388 - Pubmed
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