Definitive diagnosis* |
Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm3), small platelets, and at least one of the following: |
- Deleterious mutation in the WAS gene (other than the mutation that causes XLN)
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- Absent WAS messenger RNA (mRNA) on Northern blot analysis of lymphocytes
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- Absent WAS protein (WASP) in lymphocytes
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- Maternal male cousins, uncles, or nephews with small platelets and thrombocytopenia
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Probable diagnosis* |
Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm3), small platelets, and at least one of the following: |
- Eczema
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- Abnormal antibody response to polysaccharide antigens
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- Recurrent bacterial or viral infections
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- Autoimmune diseases
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- Lymphoma, leukemia, or other malignancies
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Possible diagnosis* |
Male patient with thrombocytopenia (less than 70,000 platelets/mm3) and small platelets, or male patient splenectomized for thrombocytopenia, who has at least one of the following: |
- Eczema
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- Abnormal antibody response to polysaccharide antigens
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- Recurrent bacterial or viral infections
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- Autoimmune diseases
|
- Lymphoma, leukemia, or other malignancies
|