Wiskott-Aldrich Syndrome Clinical Presentation

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

History

  • Male infants with WAS usually present with bleeding, commonly bloody diarrhea, prolonged bleeding from circumcision, purpura, or unusual bruising.
  • One series of 154 patients found petechiae or purpura in 78%, serious gastrointestinal bleeding (hematemesis or melena) in 28%, epistaxis in 16%, and intracranial bleeding in 2% of patients.[2]
  • Serious infections also occur. Encapsulated organisms are frequent pathogens that may cause life-threatening complications, including pneumonia, meningitis, and sepsis. Pneumocystis carinii and viral infections also may become troublesome.
  • Atopic symptoms are frequently present, and eczema develops in 81% of these patients.[2] The eczema may improve as the patient gets older, although serious complications such as secondary infection (eg, cellulitis, abscess) or erythroderma can occur.[33]
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Physical

Watch for signs of bleeding, infection, malignancy, and atopy during the physical examination.

  • Patients' general appearance and vital signs are important. Follow height and weight over time to monitor appropriate development.
  • Examine the skin for any evidence of eczema, purpura (eg, thrombocytopenia), or superficial or deep infections (eg, impetigo, cellulitis, furuncles, abscesses).
  • During head and neck examinations, note any abnormalities of the tympanic membranes (eg, otitis media) or sinuses and mucous membranes (eg, sinonasal infections, pharyngitis, thrush).
  • Auscultate lungs carefully to check for wheezing (eg, asthma) and rales or rhonchi (eg, pulmonary infection such as bronchitis or pneumonia).
  • Investigate for a possible malignancy if adenopathy or hepatosplenomegaly is present.
  • Neurological examination is particularly relevant if meningitis, central nervous system lymphoma, or intracranial bleeding or infection is considered.
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Causes

  • WAS is caused by various mutations in the gene coding for the WASp. This mutation is expressed in hematopoietic cells (eg, lymphocytes) and impairs the normal function of WASp in actin polymerization.[3] A strong phenotype-genotype correlation has been described.[34]
  • The WASp gene is located on the Xp11.22-23 region of the X chromosome and is inherited in a sex-linked fashion. A male child of a female carrier has a 50% chance of being affected; a female child has a 50% chance of being a carrier.[35]
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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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