eMedicine Specialties > Dermatology > Pediatric Diseases

Wiskott-Aldrich Syndrome: Follow-up

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

Updated: Jan 30, 2009

Follow-up

Further Outpatient Care

  • Obtaining a blood analysis on at least a monthly basis is necessary in Wiskott-Aldrich syndrome patients.
  • Malignancy evaluations should be conducted, especially in elderly Wiskott-Aldrich syndrome patients.

Complications

  • With advancing age, T-cell function is progressively impaired, and patients are increasingly susceptible to infections caused by herpes and other viruses and Pneumocystis carinii.
  • Autoimmune phenomena may develop. Arthritis, renal disease, dermatomyositis, and autoimmune hemolytic anemia have been reported.
  • Lymphoreticular malignancy develops in 18-20% of patients, particularly in those with autoimmune manifestations. Non-Hodgkin lymphoma is the most common malignancy.11
  • Intracranial hemorrhage is a constant threat.

Prognosis

  • Death usually occurs during infancy.
  • The cause of death in Wiskott-Aldrich syndrome is infection in 55-60% of patients, bleeding in 24-27% of patients, and lymphoreticular malignancy in about 5-10% of patients.
  • Ten percent of Wiskott-Aldrich syndrome patients die from lymphoreticular malignancy, usually as adolescents or young adults.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose is a pitfall.
  • The skin lesion may be misdiagnosed as atopic dermatitis.

Special Concerns

  • Almost all cases occur in the pediatric population. If patients survive, lymphoreticular malignancy may develop.
 


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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