title: [Wiskott-Aldrich syndrome: the possibilities of diagnosis and treatment].
abstract: Wiskott-Aldrich syndrome is congenital X-linked immunodeficiency characterized by frequent infections, thrombocytopenia with small platelets, eczema and increased risk of autoimmune disorders and malignancies. This article is review of Wiskott-Aldrich syndrome actual diagnostics and treatment problems. Diagnostics problems exist due to clinical heterogenity of this syndrome, which is caused by mutations of the responsible gene. Recent 15-year studies showed, that bone marrow transplantations or use of cord blood as a source of stem cells prolonged median survival from 6.5 to 11 years. However, widespread use of splenectomy, intravenous immune globulin and prophylactic antibiotics did not change survival or appearance of infections, bleeding and autoimmune diseases. An attractive option for Wiskott-Aldrich syndrome is gene therapy, which leads to complete cure.
authors.affiliation: Clinic of Pulmonology and Immunology, Kaunas University of Medicine, Lithuania. algirda@takas.lt
authors.forename: Algirda
authors.initials: A
authors.lastname: Krisiukeniene
authors.forename: Brigita
authors.initials: B
authors.lastname: Sitkauskiene
authors.forename: Raimundas
authors.initials: R
authors.lastname: Sakalauskas
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D016026:Bone Marrow Transplantation; D002648:Child; D005312:Fetal Blood; D015316:Genetic Therapy; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012307:Risk Factors; D013156:Splenectomy; D033581:Stem Cell Transplantation; D013997:Time Factors; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000601:surgery / Q000628:therapy
chemical_list: D000900:Anti-Bacterial Agents; D016756:Immunoglobulins, Intravenous
vernacular_title: Wiskott-Aldrich sindromas: diagnozavimo bei gydymo galimybes.