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Wiskott-Aldrich disease

Sunday 7 March 2004

Wiskott-Aldrich syndrome

The Wiskott-Aldrich syndrome (WAS) is a X-linked hematologic disorder characterized by recurrent pyogenic infection, thrombocytopenia, eczema, and immunodeficiency of variable severity. WAS is characterized by a combined immune defect.

Images

- microthrombocytopenia

Synopsis

- upper respiratory tract infections

  • sinusitis
  • otitis media

- lower respiratory tract infections

  • pneumonia

- gastrointestinal anomalies
- diarrhea
- inflammatory bowel disease

- splenic anomalies (9989845)

  • significant depletion of the splenic white pulp
  • significant depletion of B cell zone
  • significant decrease of marginal zone (MZ) thickness

- nephropathy
- eczema
- microthrombocytopenia
- hemorrhages

  • epistaxis
  • oral bleeding
  • hematemesis
  • melena
  • petechiae
  • Purpura

- meningitis
- small and large vessel vasculitis

- autoimmunity (40%) (12728121, 9514127)

- tumoral predisposition

  • B-cell lymphoma
    • diffuse large cell lymphoma from follicular lymphoma
    • Epstein-Barr virus-associated hodgkin lymphoma
  • T-cell lymphoma
    • cutaneous T cell lymphoma (3877477)

Biology

- thrombocytopenia
- small platelets size
- hemolytic anemia
- iron deficiency anemia
- CD43 (sialophorin) defectively expressed on surface of blood cells
- Moderately depressed antibody response to polysaccharide antigens
- Lymphopenia
- Abnormal delayed hypersensitivity skin test
- Absent microvilli on the surface of peripheral blood lymphocytes
- Prolonged bleeding time
- Normal IgG levels
- Increased IgA levels
- Increased IgE levels
- Reduced IgM levels
- Raised ESR
- Raised CRP

Etiology

- mutations in the WASP gene

  • anomalies of ilopodia formation

Associations

- cilial immotility (11092120)

References

- Calle Y, Chou HC, Thrasher AJ, Jones GE. Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells. J Pathol. 2004 Nov;204(4):460-9. PMID: 15495215

- Burns S, Cory GO, Vainchenker W, Thrasher AJ. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004 Dec 1;104(12):3454-62. PMID: 15308573

- Snapper SB, Rosen FS: The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu Rev Immunol 17:905, 1999.

- Vermi W, Blanzuoli L, Kraus MD, Grigolato P, Donato F, Loffredo G, Marino CE, Alberti D, Notarangelo LD, Facchetti F. The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease. Am J Surg Pathol. 1999 Feb;23(2):182-91. PMID: 9989845

- White JG. Inherited abnormalities of the platelet membrane and secretory granules. Hum Pathol. 1987 Feb;18(2):123-39. PMID: 3542800

- Snover DC, Frizzera G, Spector BD, Perry GS 3rd, Kersey JH. Wiskott-Aldrich syndrome: histopathologic findings in the lymph nodes and spleens of 15 patients. Hum Pathol. 1981 Sep;12(9):821-31. PMID: 6975749