Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS) is an X-linked condition characterised by thrombocytopenia. Small platelet size is the one consistent feature.

Eczema and recurrent infections are common.

Autoimmunity is reported in 26% to 72% of cases.

There is an increased risk of haematological malignancies.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive condition and is characterised by the clinical triad of thrombocytopenia, eczema, and recurrent infections.[1]O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387. http://www.ncbi.nlm.nih.gov/pubmed/10224664?tool=bestpractice.com Thrombocytopenia, with low platelet volume, is present from birth and is universal. Other features manifest over time and are variable, particularly immunodeficiency, which affects innate humoral and cellular immune responses, and a susceptibility to develop leukemia and lymphoma. There is a spectrum of disease severity, which correlates with expression of WAS protein in haematopoietic cells. With rare exceptions, carriers are completely asymptomatic.[2]Parolini O, Ressmann G, Haas OA, et al. X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med. 1998;338:291-295. http://www.nejm.org/doi/full/10.1056/NEJM199801293380504 http://www.ncbi.nlm.nih.gov/pubmed/9445409?tool=bestpractice.com [3]Andreu N, Pujol-Moix N, Martinez-Lostao L, et al. Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. Blood Cells Mol Dis. 2003;31:332-337. http://www.ncbi.nlm.nih.gov/pubmed/14636648?tool=bestpractice.com