eMedicine Specialties > Dermatology > Pediatric Diseases

Wiskott-Aldrich Syndrome: Treatment & Medication

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

Updated: Jan 30, 2009

Treatment

Medical Care

  • Transfusions of platelets and plasma decrease the risk of fatal hemorrhage in Wiskott-Aldrich syndrome patients.
  • Appropriate antibiotics should be used to treat bacterial infections. The antibiotics should be chosen based on the bacteria obtained and detected from the infected site.
  • Intravenous infusions of immune globulin decrease the risks of infection.
  • Infusion of transfer factor results in decreased frequency of infection and improvement of eczema.7
  • Bone marrow transplantation with HLA-identical marrow should be considered if patients have recurrent problems. Full engraftment results in normal platelet numbers and functions, immunologic status, and clearance of the eczema.8
  • Topical steroids may improve the eczema.
  • Gene therapy is promising for Wiskott-Aldrich syndrome.9

Surgical Care

  • Splenectomy should be considered for Wiskott-Aldrich syndrome patients with thrombocytopenia who have no HLA-matched bone marrow transplantation donor.8,10

Consultations

  • Pediatrician
  • Oncologist

Diet

  • In patients with food allergies, diet control must be considered.

Medication

Agents for Wiskott-Aldrich syndrome medical therapy are selected based on clinical presentation and response. When treating infections, if possible, identify the suspected pathogen before selecting antibiotics. Antibiotics are indicated to treat bacterial infections and for prophylaxis in patients who have had a splenectomy. Immunoglobulins and systemic corticosteroids are indicated to treat thrombocytopenia. Use topical steroids to treat eczema. Topical steroids are effective for the eczematous lesion.

Immunoglobulins

These agents provide functional immunoglobulins in patients whose ability to respond to bacterial antigens is abnormal, and they may inhibit platelet sequestration by the reticuloendothelial system.


Immune globulin (Gamimune N, Gammagard S/D, Sandoglobulin)

Used to treat thrombocytopenia; also may be indicated if serum IgG level is low or patient cannot produce functional antibody responses (eg, to polysaccharide antigens). Little data support routine use for immune defects in WAS in the absence of low serum IgG levels.

Adult

400 mg/kg/d IV for 2-5 d or 1 g/kg/d IV for 1-2 d; may need to repeat q10-21d

Pediatric

Administer as in adults

Globulin preparation may interfere with immune response to live virus vaccine (MMR) and reduce efficacy (do not administer within 3 mo of vaccine)

Documented hypersensitivity; IgA deficiency

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Check serum IgA before IVIG (use an IgA-depleted product, eg, Gammagard S/D); infusions may increase serum viscosity and thromboembolic events; infusions may increase risk of migraine attacks, aseptic meningitis (10%), urticaria, pruritus, or petechiae (2-30 d postinfusion); increases risk of renal tubular necrosis in elderly patients and in those with diabetes, volume depletion, and preexisting kidney disease; laboratory result changes associated with infusions include elevated antiviral or antibacterial antibody titers for 1 mo, 6-fold increase in ESR for 2-3 wk, and apparent hyponatremia

Corticosteroids

These agents have anti-inflammatory properties and cause profound and varied metabolic effects. They modify the body's immune response to diverse stimuli.


Hydrocortisone (Dermacort, CortaGel, Cortaid, Westcort)

Adrenocorticosteroid derivative suitable for application to skin or external mucous membranes. Has mineralocorticoid and glucocorticoid effects, resulting in anti-inflammatory activity. Used to treat eczema.

Adult

Apply sparingly to affected areas bid/qid

Pediatric

Apply as in adults

Documented hypersensitivity; viral, fungal, and bacterial skin infections

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Prolonged use, applying over large surface areas, applying potent steroids, and use of occlusive dressings may increase systemic absorption of corticosteroids and may cause Cushing syndrome, reversible HPA-axis suppression, hyperglycemia, and glycosuria


Prednisone (Deltasone)

Immunosuppressant for treatment of autoimmune disorders; may decrease inflammation by reversing increased capillary permeability and suppressing PMN activity. Stabilizes lysosomal membranes and also suppresses lymphocyte and antibody production.

Adult

1-2 mg/kg/d PO qd or divided bid/qid; taper over 2-3 wk as symptoms resolve

Pediatric

Administer as in adults

Coadministration with estrogens may decrease clearance; concurrent use with digoxin may cause digitalis toxicity secondary to hypokalemia; phenobarbital, phenytoin, and rifampin may increase metabolism of glucocorticoids (consider increasing maintenance dose); monitor for hypokalemia with coadministration of diuretics

Documented hypersensitivity; viral, fungal, tubercular skin, or connective tissue infections; peptic ulcer disease; hepatic dysfunction; GI tract disease

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Abrupt discontinuation of glucocorticoids may cause adrenal crisis; hyperglycemia, edema, osteonecrosis, myopathy, peptic ulcer disease, hypokalemia, osteoporosis, euphoria, psychosis, myasthenia gravis, growth suppression, and infections may occur with glucocorticoid use

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].

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  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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