X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

• Published in: Blood Vol. 115; no. 16; pp. 3231 - 3238
• Main Authors: Albert, Michael H., Bittner, Tanja C., Nonoyama, Shigeaki, Notarangelo, Lucia Dora, Burns, Siobhan, Imai, Kohsuke, Espanol, Teresa, Fasth, Anders, Pellier, Isabelle, Strauss, Gabriele, Morio, Tomohiro, Gathmann, Benjamin, Noordzij, Jeroen G., Fillat, Cristina, Hoenig, Manfred, Nathrath, Michaela, Meindl, Alfons, Pagel, Philipp, Wintergerst, Uwe, Fischer, Alain, Thrasher, Adrian J., Belohradsky, Bernd H., Ochs, Hans D.
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 22.04.2010; Americain Society of Hematology
• Subjects: Adolescent; Adult; Aged; Autoimmune Diseases; Autoimmune Diseases - epidemiology; Autoimmune Diseases - etiology; Biological and medical sciences; Child; Child, Preschool; complications; Disease-Free Survival; epidemiology; etiology; Female; Genes; Genes, X-Linked; genetics; Hematologic and hematopoietic diseases; Hemorrhage; Hemorrhage - epidemiology; Hemorrhage - etiology; Humans; Immunologi inom det medicinska området; Immunology in the Medical Area; Incidence; Infection; Infections - epidemiology; Infections - etiology; Kaplan-Meier Estimate; Male; Medical sciences; Middle Aged; mortality; Mutation; Neoplasms; Neoplasms - epidemiology; Neoplasms - etiology; Pediatrics; Pediatrik; Phenotype; Preschool; Retrospective Studies; Thrombocytopenia; Thrombocytopenia - complications; Thrombocytopenia - genetics; Thrombocytopenia - mortality; Wiskott-Aldrich Syndrome Protein; Wiskott-Aldrich Syndrome Protein - genetics; X-Linked; Young Adult; X linked thrombocytopenia; Prognosis; Treatment; Hematology; Genetics; Mutation; Long term

A large proportion of patients with mutations in the Wiskott-Aldrich syndrome (WAS) protein gene exhibit the milder phenotype termed X-linked thrombocytopenia (XLT). Whereas stem cell transplantation at an early age is the treatment of choice for patients with WAS, therapeutic options for patients w...