GTR Home > Conditions/Phenotypes > Thrombocytopenia, X-linked

Disease characteristics

Excerpted from the GeneReview: WAS-Related Disorders
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly recurrent ear infections. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura (ITP), immune-mediated neutropenia, arthritis, vasculitis of small and large vessels, 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), have an increased risk of developing lymphomas, which often occur in unusual, extranodal locations such as the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are mild or absent.

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Associated genes

Clinical features

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  • Increased IgE level
  • Intermittent thrombocytopenia
  • Epistaxis
  • Eczema
  • Petechiae
  • Bruising susceptibility
  • Congenital thrombocytopenia
  • Abnormality of the musculature
  • Increased IgA level
  • Joint hemorrhage
  • Decreased mean platelet volume
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