A MULTIINSTITUTIONAL SURVEY OF THE WISKOTT-ALDRICH SYNDROME

The Wiskott-Aldrich syndrome is an X-linked primary immunodeficiency originally characterized by the clinical triad of thrombocytopenia, eczema, and immunodeficiency, We collected clinical and laboratory information on 154 unselected patients with Wiskott-Aldrich syndrome to define better the clinical expression of this disorder. The classic triad of thrombocytopenia with small platelets, recurrent otitis media, and eczema was seen in only 27% of the study population; 5% of the study population had only infectious manifestations, and 20% of the study group had only hematologic manifestations before diagnosis, The results of immunologic evaluations varied from one patient to another and the course of the disorder varied tremendously, even within a single kindred, We conclude that many patients with Wiskott-Aldrich syndrome have an atypical presentation and that a panel of diagnostic tests is often required to establish the diagnosis, Two high-risk subgroups were identified in the study population: patients with platelet counts < 10 X 10(9)/L (< 10,000/mm(3)) at the time of diagnosis were at high risk of bleeding, and patients with autoimmune disorders were at increased risk of having a malignancy,