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A multiinstitutional survey of the Wiskott-Aldrich syndrome

1994; Elsevier BV; Volume: 125; Issue: 6 Linguagem: Inglês

10.1016/s0022-3476(05)82002-5

1097-6833

Kathleen E. Sullivan, Craig A. Mullen, R. Michael Blaese, Jerry A. Winkelstein,

Immunodeficiency and Autoimmune Disorders

Abstract 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 × 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. (J PEDIATR 1994;125:876-85)