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Wiskott-Aldrich Syndrome: Multimedia
Updated: Jun 5, 2009
Multimedia
![]() | Media file 1: Eczematous lesions in Wiskott-Aldrich syndrome. The lesion is essentially indistinguishable from that of atopic dermatitis except for the presence of purpura and petechiae. |
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References
Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. Dec 1999;93(3):190-7. [Medline].
Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. Dec 1994;125(6 Pt 1):876-85. [Medline].
Snapper SB, Rosen FS. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu Rev Immunol. 1999;17:905-29. [Medline].
Kwan SP, Hagemann TL, Radtke BE, et al. Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. Proc Natl Acad Sci U S A. May 9 1995;92(10):4706-10. [Medline].
Yin HL, Stull JT. Proteins that regulate dynamic actin remodeling in response to membrane signaling minireview series. J Biol Chem. Nov 12 1999;274(46):32529-30. [Medline].
Haddad E, Zugaza JL, Louache F, et al. The interaction between Cdc42 and WASP is required for SDF-1-induced T- lymphocyte chemotaxis. Blood. Jan 1 2001;97(1):33-8. [Medline].
Snapper SB, Meelu P, Nguyen D, et al. WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo. J Leukoc Biol. Mar 17 2005;Epub:[Medline].
Westerberg L, Larsson M, Hardy SJ, et al. Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. Blood. Feb 1 2005;105(3):1144-52.
Zhang H, Schaff UY, Green CE, Chen H, Sarantos MR, Hu Y. Impaired integrin-dependent function in Wiskott-Aldrich syndrome protein-deficient murine and human neutrophils. Immunity. Aug 2006;25(2):285-95. [Medline].
Remold-O'Donnell E, Rosen FS. Sialophorin (CD43) and the Wiskott-Aldrich syndrome. Immunodefic Rev. 1990;2(2):151-74. [Medline].
Huang W, Ochs HD, Dupont B, et al. The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappaB (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement. J Immunol. Mar 1 2005;174(5):2602-11. [Medline].
Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr Opin Hematol. Jul 2005;12(4):284-91. [Medline].
Notarangelo LD, Notarangelo LD, Ochs HD. WASP and the phenotypic range associated with deficiency. Curr Opin Allergy Clin Immunol. Dec 2005;5(6):485-90. [Medline].
Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol. Apr 2006;117(4):725-38; quiz 739. [Medline].
Anton IM, Jones GE. WIP: a multifunctional protein involved in actin cytoskeleton regulation. Eur J Cell Biol. Apr 2006;85(3-4):295-304. [Medline].
de la Fuente MA, Sasahara Y, Calamito M, et al. WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). Proc Natl Acad Sci U S A. Jan 16 2007;104(3):926-31. [Medline].
Konno A, Kirby M, Anderson SA, Schwartzberg PL, Candotti F. The expression of Wiskott-Aldrich syndrome protein (WASP) is dependent on WASP-interacting protein (WIP). Int Immunol. Feb 2007;19(2):185-92. [Medline].
Calle Y, Anton IM, Thrasher AJ, Jones GE. WASP and WIP regulate podosomes in migrating leukocytes. J Microsc. Sep 2008;231(3):494-505. [Medline].
Ramesh N, Geha R. Recent advances in the biology of WASP and WIP. Immunol Res. Nov 19 2008;[Medline].
Soderling SH, Scott JD. WAVE signalling: from biochemistry to biology. Biochem Soc Trans. Feb 2006;34(Pt 1):73-6. [Medline].
Takenawa T, Suetsugu S. The WASP-WAVE protein network: connecting the membrane to the cytoskeleton. Nat Rev Mol Cell Biol. Jan 2007;8(1):37-48. [Medline].
Perry GS 3d, Spector BD, Schuman LM, et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892- 1979). J Pediatr. Jul 1980;97(1):72-8. [Medline].
Ryser O, Morell A, Hitzig WH. Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. J Clin Immunol. Nov 1988;8(6):479-85. [Medline].
Abuzakouk M, Feighery C. Primary Immunodeficiency Disorders in the Republic of Ireland: First Report of the National Registry in Children and Adults. J Clin Immunol. Jan 2005;25(1):73-77. [Medline].
Mullen CA, Anderson KD, Blaese RM. Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: long-term follow-up of 62 cases. Blood. Nov 15 1993;82(10):2961-6. [Medline].
Kobayashi R, Ariga T, Nonoyama S, Kanegane H, Tsuchiya S, Morio T. Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol. Nov 2006;135(3):362-6. [Medline].
Pai SY, DeMartiis D, Forino C, Cavagnini S, Lanfranchi A, Giliani S. Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation. Bone Marrow Transplant. Nov 2006;38(10):671-9. [Medline].
Parolini O, Ressmann G, Haas OA, et al. X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med. Jan 29 1998;338(5):291-5. [Medline].
Peacocke M, Siminovitch KA. Wiskott-Aldrich syndrome: new molecular and biochemical insights. J Am Acad Dermatol. Oct 1992;27(4):507-19. [Medline].
Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes. Immunol Res. Dec 11 2008;[Medline].
Schwaber J, Rosen FS. X chromosome linked immunodeficiency. Immunodefic Rev. 1990;2(3):233-51. [Medline].
Ochs HD, Slichter SJ, Harker LA, et al. The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets. Blood. Feb 1980;55(2):243-52. [Medline].
Schwartz M, Mibashan RS, Nicolaides KH, et al. First-trimester diagnosis of Wiskott-Aldrich syndrome by DNA markers [letter]. Lancet. Dec 9 1989;2(8676):1405. [Medline].
Kenney DM. Wiskott-Aldrich syndrome and related X-linked thrombocytopenia. Curr Opin Pediatr. 1990;2:931-4.
Buckley RH. Advances in the correction of immunodeficiency by bone marrow transplantation. Pediatr Ann. May 1987;16(5):412-3, 416-21. [Medline].
Filipovich AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. Mar 15 2001;97(6):1598-603. [Medline].
Knutsen AP, Steffen M, Wassmer K, et al. Umbilical cord blood transplantation in Wiskott Aldrich syndrome. J Pediatr. May 2003;142(5):519-23. [Medline].
Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. Jan 2008;15(1 Suppl):84-90. [Medline].
Parkman R, Rappeport J, Geha R, et al. Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone-marrow transplantation. N Engl J Med. Apr 27 1978;298(17):921-7. [Medline].
Boztug K, Dewey RA, Klein C. Development of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome. Curr Opin Mol Ther. Oct 2006;8(5):390-5. [Medline].
Galy A, Roncarolo MG, Thrasher AJ. Development of lentiviral gene therapy for Wiskott Aldrich syndrome. Expert Opin Biol Ther. Feb 2008;8(2):181-90. [Medline].
Frecha C, Toscano MG, Costa C, Saez-Lara MJ, Cosset FL, Verhoeyen E. Improved lentiviral vectors for Wiskott-Aldrich syndrome gene therapy mimic endogenous expression profiles throughout haematopoiesis. Gene Ther. Jun 2008;15(12):930-41. [Medline].
Marangoni F, Bosticardo M, Charrier S, Draghici E, Locci M, Scaramuzza S, et al. Evidence for Long-term Efficacy and Safety of Gene Therapy for Wiskott-Aldrich Syndrome in Preclinical Models. Mol Ther. Mar 3 2009;[Medline].
Litzman J, Jones A, Hann I, et al. Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome. Arch Dis Child. Nov 1996;75(5):436-9. [Medline].
Lum LG, Tubergen DG, Corash L, Blaese RM. Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. N Engl J Med. Apr 17 1980;302(16):892-6. [Medline].
Akman IO, Ostrov BE, Neudorf S. Autoimmune manifestations of the Wiskott-Aldrich syndrome. Semin Arthritis Rheum. Feb 1998;27(4):218-25. [Medline].
Dupuis-Girod S, Medioni J, Haddad E, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. May 2003;111(5 Pt 1):e622-7. [Medline].
Buckley RH. Primary Immunodeficiency Diseases. In: Middleton E Jr, Reed CE, Ellis EF, Adkinson NF Jr, Yunginger JW, Busse WW, eds. Allergy: Principles and Practice. Vol 2. 5th ed. St. Louis, Mo: Mosby-Year Book; 1998:713-34.
Winkelstein JA, Fearon E. Carrier detection of the X-linked primary immunodeficiency diseases using X-chromosome inactivation analysis. J Allergy Clin Immunol. Jun 1990;85(6):1090-7. [Medline].
Conley ME, Saragoussi D, Notarangelo L, et al. An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. Clin Immunol. Dec 2003;109(3):272-7. [Medline].
Friedrich W, Schutz C, Schulz A, Benninghoff U, Honig M. Results and long-term outcome in 39 patients with Wiskott-Aldrich syndrome transplanted from HLA-matched and -mismatched donors. Immunol Res. Oct 10 2008;[Medline].
Grabenstein JD. Immune Globulin Intravenous (Human). In: ImmunoFacts: Vaccines & Immunologic Drugs. Conshohocken, Pa: Wolters Kluwer Health (Facts and Comparisons); 1999:212-24b.
Guill MF, Brown DA, Ochs HD, et al. IgM deficiency: clinical spectrum and immunologic assessment. Ann Allergy. Jun 1989;62(6):547-52. [Medline].
Hobbs JR, Milner RD, Watt PJ. Gamma-M deficiency predisposing to meningococcal septicaemia. Br Med J. Dec 9 1967;4(579):583-6. [Medline].
National Institutes of Health Consensus Conference. Intravenous immunoglobulin. Prevention and treatment of disease. JAMA. Dec 26 1990;264(24):3189-93. [Medline].
Park JY, Shcherbina A, Rosen FS, et al. Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome. Clin Exp Immunol. Feb 2005;139(2):297-305. [Medline].
Sorensen RU, Tomford JW, Gyves MT, et al. Use of intravenous immune globulin in pregnant women with common variable hypogammaglobulinemia. Am J Med. Mar 30 1984;76(3A):73-7. [Medline].
Taha S, Kindzelskii AL, Petty HR. Neutrophils Metabolic Oscillations in Wiskott-Aldrich Syndrome. J Allergy Clin Immunol. 2000;105 (part 1 of 2):S217.
Yocum MW, Strong DM, Chusid MJ, Lakin JD. Selective immunoglobulin M (IgM) deficiency in two immunodeficient adults with recurrent staphylococcal pyoderma. Am J Med. Apr 1976;60(4):486-94. [Medline].
Further Reading
Keywords
hypoimmunoglobulinemia M, hypogammaglobulinemia M, dysgammaglobulinemia M, dysimmunoglobulinemia M, dysgammaglobulinemia type V, gamma-M deficiency, selective IgM deficiency, selective immunoglobulin M deficiency, WAS, thrombocytopenia, eczema, autoimmune disease, hematologic malignancy


Multimedia: Wiskott-Aldrich Syndrome