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/mm3) at the time of diagnosis were at high risk of bleeding, and patients with autoimmune disorders were at increased risk of having a malignancy.
Sullivan
K E
KE
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Mullen
C A
CA
Blaese
R M
RM
Winkelstein
J A
JA
D000293:Adolescent; D000328:Adult; D000917:Antibody Formation; D001327:Autoimmune Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000628:therapy; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D016756:Immunoglobulins, Intravenous; D007223:Infant; D007231:Infant, Newborn; D018655:Lymphocyte Count; D008297:Male; D009369:Neoplasms / Q000209:etiology; D010641:Phenotype; D010976:Platelet Count; D012189:Retrospective Studies; D013601:T-Lymphocytes / Q000276:immunology; D014481:United States; D014923:Wiskott-Aldrich Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D014960:X Chromosome
D016756:Immunoglobulins, Intravenous