Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.7 (DNA polymerase)
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Griscelli syndrome (GS) is a rare autosomal recessive immunodeficiency disorder in which the affected children present with characteristic silvery-white hairs. The hair microscopy of these children is characteristic and is helpful in differentiating GS from Chediak-Higashi syndrome which also presents with immunodeficiency and silver hairs. We report a 17-month-old boy with GS type 2 who presented with severe anemia. Bone marrow examination of the child suggested parvovirus B19 as the cause of severe anemia, which was later confirmed by DNA polymerase chain reaction.
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PMID:Severe anemia due to parvovirus B19 in a silver haired boy. 2696 Jun 54