Wiskott-Aldrich Syndrome Workup

  • Author: Donald A Dibbern Jr, MD; Chief Editor: Michael A Kaliner, MD   more...
 
Updated: Apr 10, 2012
 

Laboratory Studies

  • Quantitative serum immunoglobulin levels
    • Measure quantitative serum immunoglobulin levels of all other classes (ie, immunoglobulin A [IgA], immunoglobulin G [IgG], immunoglobulin E [IgE]).
    • This measurement assists with accurate diagnosis because IgM deficiency may be part of a more extensive humoral immunodeficiency (eg, common variable immunodeficiency).
    • In classic WAS, IgM levels are low and IgG levels are relatively normal, but IgA and IgE levels may be elevated. On the other hand, in common variable immunodeficiency, a low IgG level is the hallmark of the disease, which is associated with low IgA levels, low IgM levels, or both.
  • Functional testing of the humoral and cellular components of the immune system
    • Test humoral immune function by measuring the patient's ability to develop antibody responses to standard polysaccharide and protein antigen vaccines (eg, pneumococcal vaccine, tetanus toxoid), using preimmunization and postimmunization antibody titers.
    • Measure cellular immune function by examining lymphocyte proliferative responses to mitogens, alloantigen, and recall antigens and the patient's ability to react to anergy battery skin testing with delayed-type (type IV) hypersensitivity responses. The latter skin test antigens typically consist of candidal, mumps, trichophyton, and tetanus toxoid antigens.
    • In WAS, defects in a patient's response to polysaccharide vaccination and anergy are common. Responses to protein antigens and lymphocyte proliferation may also be impaired.[2]
  • Complete blood cell count
    • Obtain a complete blood cell count with manual differential, lymphocyte enumeration, and peripheral blood smear. Enumeration of T- and B-cell subsets by flow cytometry may be helpful.
    • This test provides quantitative and morphologic information about cellular elements of the immune system and information about platelet numbers and morphology. T-cell deficiency may occur, although B-cell number is usually preserved (albeit with possibly significantly altered phenotypic expression). Thrombocytopenia and small platelets are present in patients with this disorder.[2, 36] Patients with WAS may have unstable sialoglycoprotein CD43 (sialophorin) on the surface of lymphocytes[10] . One study of 154 patients with WAS revealed lymphopenia in 22% and low CD8+ T-cell counts in 61%.[2]
  • Consider genetic testing for carrier status. Prenatal diagnosis via amniocentesis or chorionic villus sampling is possible.[37]
  • Patients may require other tests based on clinical presentation. Serious disorders (eg, bleeding, infection, malignancy) form part of this syndrome.
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Imaging Studies

  • If pneumonia is considered, obtain a chest radiograph.
  • Use computed tomography to evaluate for splenomegaly, help rule out malignancy, help rule out intracranial bleeding, evaluate sinus infection, and/or evaluate for pulmonary infections.
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Procedures

  • Consider obtaining a bone marrow biopsy to assist diagnosis in complex cases or to evaluate for hematologic malignancy. However, patients generally do not require bone marrow biopsy. If performed, megakaryocytes usually appear normal.[36]
  • If meningitis is considered, a lumbar puncture may be necessary.
  • Recurrent otitis media may require tympanostomy tube placement.
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Histologic Findings

Platelets in patients with WAS are small, with a decreased diameter and volume. One study of platelets in patients with WAS found an average diameter of 1.82 micrometer (normal = 2.23 micrometer)[38] , and another study found a mean volume of 3.8-5 fL, compared with 7.1-10.5 fL in individuals without WAS.[36]

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Contributor Information and Disclosures
Author

Donald A Dibbern Jr, MD  Consulting Staff (Allergist), Providence St Vincent Medical Center

Donald A Dibbern Jr, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Allergy Asthma and Immunology, and Oregon Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

John M Routes, MD  Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics, Chief, Section of Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin

John M Routes, MD, is a member of the following medical societies: Alpha Omega Alpha, American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Microbiology, American Society for Virology, Clinical Immunology Society, and Federation of American Societies for Experimental Biology

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles H Kirkpatrick  MD

Charles H Kirkpatrick is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Physicians, American Federation for Clinical Research, American Society for Clinical Investigation, and Clinical Immunology Society

Disclosure: Dyax Consulting fee Consulting

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Michael R Simon, MD, MA  Clinical Professor Emeritus, Departments of Internal Medicine and Pediatrics, Wayne State University School of Medicine; Professor, Department of Internal Medicine, Oakland University William Beaumont University School of Medicine; Adjunct Staff, Division of Allergy and Immunology, Department of Internal Medicine, William Beaumont Hospital

Michael R Simon, MD, MA is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Physicians, American Federation for Medical Research, Michigan Allergy and Asthma Society, Michigan State Medical Society, Royal College of Physicians and Surgeons of Canada, and Society for Experimental Biology and Medicine

Disclosure: Secretory IgA, Inc. Ownership interest Management position

Timothy D Rice, MD  Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, St Louis University School of Medicine

Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians

Disclosure: Nothing to disclose.

Chief Editor

Michael A Kaliner, MD  Clinical Professor of Medicine, George Washington University School of Medicine; Chief, Section of Allergy and Immunology, Washington Hospital Center; Medical Director, Institute for Asthma and Allergy

Michael A Kaliner, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Clinical Investigation, American Thoracic Society, and Association of American Physicians

Disclosure: Alcon Consulting fee Consulting; Teva Consulting fee Consulting; Meda Honoraria Speaking and teaching; Ista Consulting fee Consulting; sunovian Consulting fee Consulting; dey Honoraria Review panel membership

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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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