Medical Literature
New insights into the biology of WAS, A Thrasher, Hematology 2009
Wiskott-Aldrich Syndrome by Dr. S. Burns and Dr. A. Thrasher. British Medical Journal
Wisk0tt-Aldrich Syndrome. National Library of Medicine
Wiskott Aldrich Syndrome from Socialstyrelsen by Anders Fasth, M.D.
Wiskott Aldrich Syndrome Family Handbook from the Immune Deficiency Foundation
Wiskott Aldrich Syndrome from Patient Plus UK
Wiskott-Aldrich Syndrome, Donald Dibbern, e-medicine
Wiskott-Aldrich Syndrome: Diagnosis, Clinical and Laboratory Manifestations, and Treatment Hans D. Ochs Biology of Blood and Marrow transplantation Volume 15, Issue 1, Supplement, Pages 84-90 (January 2009)
WAS Related Disorders Filipovich, A et al Gene Reviews Sept. 2004
Wiskott Aldrich Syndrome-A multi institutional survey
Databases
Disease Database listing 294 mutations from Resource of Asian Primary Immunodeficiencies(RAPID)
Diseases Database: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome: WAS OMIM
WASPBase Database of Published WAS gene mutations 2004
Classification and Scoring of WAS
Wiskott-Aldrich Syndrome: Diagnosis, Clinical and Laboratory Manifestations, and Treatment Hans D. Ochs, Alexandra H. Filipovich, Paul Veys, Morton J. Cowan, Neena Kapoor Biology of Blood and Marrow Transplantation Volume 15, Issue 1, Supplement, Pages 84-90 (January 2009)
Clinical Phenotypes of Wiskott Aldrich Syndrome: Notarangelo LD et al Current Opinion in Hematology Jan 2008
Clinical Scoring of patients with WAS Jin Y et al Blood Dec 15 2004
Scoring based on Wiskott Aldrich Syndrome Protein(WASP) Levels: Shcherbina A, Journal Of Immunology, Dec. 1 1999
Clinical Course of Patients
X-Linked Thrombocytopenia due to WAS Mutations: Clinical Characteristics, long-term outcome, and treatment options, Michael Albert et al, Blood First Line Edition Paper, prepublished February 19, 2010
Clinical Course of Patients with WASP Gene Mutations, Imai, K et al Blood, 15 Jan. 2004, Vol.103, No.2, pp.456-464
Autoimmunity in WAS
Autoimmunity in Wiskott-Aldrich Syndrome: Risk Factors, Clinical features, and Outcome in a Single-Center Cohort of 55 Patients Sophie Dupuis-Girod, MD et al Pediatrics Vol 111 No. 5 May 2003, ppe622-e627
Abstract: Autoimmunity in Wiskott-Aldrich Syndrome Schurman, SH et al Current Opinion in Rheumatology, 2003 Jul, 15(4):446-53
Abstract: Autoimmune disroders and lymphoma: A multiinstitutional survey of the Wiskott-Aldrich syndrome. Sullivan, KE J Pediatrics1994 Dec;125(6 Pt 1): 876-8
Genotype-Phenotype Correlations
Mutations of the Wiskott-Aldrich Syndrome Protein(WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation Jin Y et al Blood, 15 Dec 2004, Vol. No. 13, pp. 4010-4019
Abstract: Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Notarangelo, LD Current Opinion in Immunology: 2003 Oct;15(5):585-91
Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia: WASP Gene Mutations, Protein Expression and Phenotype Zhu, Q et al Blood, Vo. 90 No. 7(Oct. 1), 1997: pp. 2680-2689
Treatment Options
An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. Conley ME et al JLClin Immunol. 2003; 109: 272–7. [PubMed]
Transplants
Wiskott Aldrich Syndrome and Transplant - NMDP
Abstract: Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich Syndrome:collaborative study of the European Society for Immunodeficiencies and European Grop for Blood and Marrow Transplantation Ozsahin, H et al Blood, 1 January 2008, Vol.111, No. 1, pp.439-445
Results and long term outcome in 39 patients with Wiskott-Aldrich Syndrome transplanted from HLA matched and mismatched donors Wilhelm Friedrich et al Immmunologic Research Oct.2008
Abstract: Hematopoietic cell transplantation for correction of primary immunodeficienciesFilipovich A. Bone Marrow Transplant 2008 Aug;42 Suppl 1:S49-S52.
Abstract: Stem Cell Transplantation for the Wiskott-Aldrich Syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation Pai SY et al Pediatr Hematol Oncol. 2007 Sep;24(6):393-402.
Unmatched Bone Marrow Transplant Can Be As Effective As A Perfect Match in Young Children Filipovich A Cincinnati Children's Hospital
Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich Syndrome: collaborative study of teh International Bone Marrow Transplant Registry and the National Marrow Donor Program, Blood, mar 15 2001
Prevention of Opportunistic Infections in HSCT Recipients MMWR, Oct 20, 2000
Umbilical Cord Blood Transplant in Wiskott Aldrich Syndrome Knutsen A. et al Volume 142,Issue 5, Pages 519-523 (May 2003)
Preventing Opportunistic infections in HSCT Recipients-An excellent review article from the CDC which includes how to prevent infections, immunization etc.
Gene Therapy
Gene Therapy for Immunodeficiency due to Adenosine Deaminase Deficiency Alessandro Aiuti, Federica Cattaneo, Stefania Galimberti, Ulrike Benninghoff, Barbara Cassani, Luciano Callegaro, Samantha Scaramuzza,, Grazia Andolfi, Massimiliano Mirolo, Immacolata Brigida, Antonella Tabucchi, Filippo Carlucci, Martha Eibl, Memet Aker,Shimon Slavin, Hamoud Al-Mousa, Abdulaziz Al Ghonaium, Alina Ferster, Andrea Duppenthaler, Luigi Notarangelo, Uwe Wintergerst, Rebecca H. Buckley, Marco Bregni, Sarah Marktel,Maria Grazia Valsecchi, Paolo Rossi, Fabio Ciceri, Roberto Miniero, Claudio Bordignon and Maria-Grazia Roncarolo, M.D. Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency. The New England Journal of Medicine Volume, Jan 29, 2009 ; 360:447-458
Development of lentiviral gene therapy for Wiskott Aldrich syndrome Anne Galy, Maria-Grazia Roncarolo & Adrian J Thrasher
Expert Opinion on Biological Therapy. February 2008, Vol. 8, No. 2, Pages 181-190
Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome, Session Type: Oral Boztug, K et al Proceedings of American Society of Hematology Meeting, Monday, December 10, 2007
Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in miceChristoph Klein Blood, 15 March 2003, Vol. 101, No. 6, pp. 2159-2166
Revertant Changes in WAS Patients
Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich Syndrome Clin Genet. 2008 Jul;74(1):68-74 Boztug K, Germeshausen M, Avedillo Diez I, Gulacsy V, Diestelhorst J, Ballmaier M, Welte K, marodi L, Chernyshova L, Klein C
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich Syndrome Family Wada, T et al Blood, 1 Sept. 2004, Vol. 104, No. 5, pp.1270-1272
Evolution of Highly Polymorhic T Cell Populations in Siblings with the Wiskott-Aldrich Syndrome Lutskiy, M et al
Somatic Mosaicism in Wiskott-Aldrich Syndrome suggests in vivo reversion by a DNA slippage mechanism Wada, T et al Proceedings of the National Academy of Sciences of the U.S.A.
The Phenomenon of SpontaneousGenetic Reversions in the Wiskott-Aldrich Syndrome Donn M. Stewart et al Journal of Clinical Immunology, Nov. 2007
