Dyskeratosis congenita: Unusual onset with isolated neutropenia at an early age |
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Authors: | LEMAN YEL ILHAN TEZCAN
ZDEN SANAL FÜGEN ERSOY A IZZET BERKEL |
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Institution: | LEMAN YEL,ILHAN TEZCAN,ÖZDEN SANAL,FÜGEN ERSOY,A IZZET BERKEL |
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Abstract: | A 3.5 year old male patient with dyskeratosis congenita (DC) presented at the age of 13 months with isolated neutropenia preceding characteristic skin findings. The average absolute neutrophil count of 500/mm3 persisted without the presence of anemia or thrombocytopenia during the follow up. Neutropenia responded to granulocyte-colony stimulating factor (G-CSF) at a dose of 10 μg/kg per day. Immunologic findings were normal as was the chromosomal stability and sister chromatid exchange. |
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Keywords: | dyskeratosis congenita granulocyte-colony stimulating factor (G-CSF) neutropenia |
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