Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Bell D, Sharma R, et al. Wiskott-Aldrich syndrome. Reference article, Radiopaedia.org (Accessed on 24 Apr 2024) https://doi.org/10.53347/rID-41754
Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency disease.
The incidence currently 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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