title: An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome.
abstract: Wiskott-Aldrich syndrome is a rare immunodeficiency characterized by thrombocytopenia, eczema, recurrent infections, autoimmunity, and an increased incidence of malignancy. Clinical severity is highly variable. As a first step toward the development of therapeutic guidelines, an international study to evaluate current treatment strategies was undertaken. A total of 73 centers from 24 countries participated. These centers provide care for 507 patients with Wiskott-Aldrich syndrome. Treatment strategies were strikingly variable in both small and large centers. Most options were used in at least some patients in the majority of centers, indicating that treatment is individualized; however, there were some clear trends. Most centers use intravenous gammaglobulin and prophylactic antibiotics in the majority of patients. Splenectomy was used more sparingly. Stem cell transplant was more likely to be used in centers providing care for 10 or more patients. Studies that better define prognostic markers and optimal therapy are needed.
authors.affiliation: Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38101, USA. maryellen.conley@stjude.org
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
authors.forename: Delphine
authors.initials: D
authors.lastname: Saragoussi
authors.forename: Luigi
authors.initials: L
authors.lastname: Notarangelo
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
authors.forename: Jean Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D019072:Antibiotic Prophylaxis; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007391:International Cooperation; D008297:Male; D012189:Retrospective Studies; D013156:Splenectomy; D033581:Stem Cell Transplantation; D014923:Wiskott-Aldrich Syndrome / Q000628:therapy*
chemical_list: D016756:Immunoglobulins, Intravenous