eMedicine Specialties > Dermatology > Pediatric Diseases

Wiskott-Aldrich Syndrome: Differential Diagnoses & Workup

Author: Akimichi Morita, MD, PhD, Professor, Chairman, Department of Dermatology, Nagoya City University Medical School, Japan
Contributor Information and Disclosures

Updated: Jan 30, 2009

Differential Diagnoses

Atopic Dermatitis
DiGeorge Syndrome
Langerhans Cell Histiocytosis
Seborrheic Dermatitis

Other Problems to Be Considered

Leiner disease

Workup

Laboratory Studies

  • In Wiskott-Aldrich syndrome WAS), thrombocytopenia is persistent in the range of 1,000-80,000 platelets/µL. The platelets are small and fail to aggregate normally. Their survival is shortened. No antiplatelet antibodies can be detected.
  • Blood analysis shows Coombs-positive hemolytic anemia, leukocytopenia, lymphopenia, and eosinophilia.
  • Total serum gammaglobulin levels are usually in the reference range. The immunoglobulin M level is low, but immunoglobulin A, IgE, and immunoglobulin D levels are usually elevated. The immunoglobulin G level is in the reference range in almost all cases. This distinctive immunoglobulin pattern may not be present until the patient is several years of age.
  • The number of T cells and responses to mitogens in vitro may be normal in early life but often decreases in older age.
  • Natural killer cell–mediated cytotoxicity is deficient.
  • CD43 expression on the surface of lymphocytes is low. This finding can be detected by flow cytometry or western blot analysis.
  • The expression of WAS protein from peripheral blood mononuclear cells by flow cytometry or Western blot analysis help in making the diagnosis prior to mutational analysis. The level of WAS protein correlates with the phenotype of affected patient and the clinical course.6
  • After the above screening methods, the mutational analysis of the WASP gene is important to make a definitive diagnosis.

Other Tests

  • Delayed hypersensitivity skin testing results, such as Candida and purified protein derivative of tuberculin, are reduced.

Histologic Findings

  • A lesional skin specimen from a Wiskott-Aldrich syndrome patient shows findings similar to those of atopic dermatitis.

More on Wiskott-Aldrich Syndrome

Overview: Wiskott-Aldrich Syndrome
Differential Diagnoses & Workup: Wiskott-Aldrich Syndrome
Treatment & Medication: Wiskott-Aldrich Syndrome
Follow-up: Wiskott-Aldrich Syndrome
Multimedia: Wiskott-Aldrich Syndrome
References
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References

  1. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. Aug 26 1994;78(4):635-44. [Medline].

  2. Perry GS 3rd, 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].

  3. Conley ME, Wang WC, Parolini O, Shapiro DN, Campana D, Siminovitch KA. Atypical Wiskott-Aldrich syndrome in a girl. Blood. Sep 1 1992;80(5):1264-9. [Medline].

  4. Silvin C, Belisle B, Abo A. A role for Wiskott-Aldrich syndrome protein in T-cell receptor-mediated transcriptional activation independent of actin polymerization. J Biol Chem. Jun 15 2001;276(24):21450-7. [Medline].

  5. Pulecio J, Tagliani E, Scholer A, et al. Expression of Wiskott-Aldrich syndrome protein in dendritic cells regulates synapse formation and activation of naive CD8+ T cells. J Immunol. Jul 15 2008;181(2):1135-42. [Medline].

  6. Yamada M, Ariga T, Kawamura N, et al. Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. J Immunol. Jul 15 2000;165(2):1119-22. [Medline].

  7. Sellars WA, South MA. Wiskott-Aldrich syndrome with 18-year survival. Treatment with transfer factor. Am J Dis Child. May 1975;129(5):622-7. [Medline].

  8. 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].

  9. Dupre L, Marangoni F, Scaramuzza S, et al. Efficacy of gene therapy for Wiskott-Aldrich syndrome using a WAS promoter/cDNA-containing lentiviral vector and nonlethal irradiation. Hum Gene Ther. Mar 2006;17(3):303-13. [Medline].

  10. Corash L, Shafer B, Blaese RM. Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome. Blood. Jun 1985;65(6):1439-43. [Medline].

  11. Cotelingam JD, Witebsky FG, Hsu SM, Blaese RM, Jaffe ES. Malignant lymphoma in patients with the Wiskott-Aldrich syndrome. Cancer Invest. 1985;3(6):515-22. [Medline].

  12. Filipovich AH, Mathur A, Kamat D, Kersey JH, Shapiro RS. Lymphoproliferative disorders and other tumors complicating immunodeficiencies. Immunodeficiency. 1994;5(2):91-112. [Medline].

  13. Kwan SP, Hagemann TL, Radtke BE, Blaese RM, Rosen FS. 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].

  14. Notarangelo LD, Mori L. Wiskott-Aldrich syndrome: another piece in the puzzle. Clin Exp Immunol. Feb 2005;139(2):173-5. [Medline].

  15. Oda A, Ochs HD. Wiskott-Aldrich syndrome protein and platelets. Immunol Rev. Dec 2000;178:111-7. [Medline].

  16. Savoy DN, Billadeau DD, Leibson PJ. Cutting edge: WIP, a binding partner for Wiskott-Aldrich syndrome protein, cooperates with Vav in the regulation of T cell activation. J Immunol. Mar 15 2000;164(6):2866-70. [Medline].

  17. 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].

  18. Tsuji Y, Imai K, Kajiwara M, et al. Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant. Mar 2006;37(5):469-77. [Medline].

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Further Reading

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Keywords

Wiskott-Aldrich syndrome, Wiskott-Aldrich-Huntley syndrome, eczema-thrombocytopenia syndrome, eczema-thrombocytopenia-diarrhea syndrome, eczema-thrombocytopenia immunodeficiency syndrome, X-linked disorders, thrombocytopenia, eczema, recurrent pyogenic infections

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Contributor Information and Disclosures

Author

Akimichi Morita, MD, PhD, Professor, Chairman, Department of Dermatology, Nagoya City University Medical School, Japan
Disclosure: Nothing to disclose.

Medical Editor

Jacek C Szepietowski, MD, PhD, Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland
Disclosure: Stiefel Salary Employment

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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