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Wiskott-Aldrich syndrome

Synonyms
Aldrich syndrome; Eczema thrombocytopenia immunodeficiency syndrome; IMD 2; Immunodeficiency 2; WISKOTT-ALDRICH SYNDROME 1; Wiskott-aldrich syndrome, somatic
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: WAS-Related Disorders
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Sharat Chandra
Chinmayee B Nagaraj
Miao Sun
view full author information

Available tests

74 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (74 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD2, SCNX, THC, THC1, WASP, WASPA, WAS
    Summary: WASP actin nucleation promoting factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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