Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome
Wiskott–Aldrich syndrome has an X-linked recessive pattern of inheritance.
Classification and external resources
Specialty	hematology
ICD-10	D82.0
ICD-9-CM	279.12
OMIM	301000
DiseasesDB	14176
eMedicine	med/1162 ped/2443 derm/702
MeSH	D014923
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Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present similar but less severe symptoms and are caused by mutations of the same gene.

The disease occurs much more in males than females (due to the X-linked recessive pattern of inheritance) and is estimated to occur in between 1 and 10 males per million. The first signs of WAS are usually petechiae and bruising, resulting from a low platelet count. Spontaneous nose bleeds and bloody diarrhea are common. Eczema develops within the first month of life. Recurrent bacterial infections develop by three months. Enlargement of the spleen is not an uncommon finding. The majority of WAS children develop at least one autoimmune disorder, and cancers (mainly lymphoma and leukemia) develop in up to a third of patients.Immunoglobulin M (IgM) levels are reduced, IgA and IgE are elevated, and IgG levels can be normal, reduced, or elevated.

In Wiskott–Aldrich syndrome, the platelets are small and do not function properly. They are removed by the spleen, which leads to low platelet counts. The immune deficiency is caused by decreased antibody production, and the inability of T cells to become polarized. This leads to increased susceptibility to infections, particularly of the ears and sinuses. T cells are unable to reorganize their actin cytoskeleton.

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