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BACKGROUND Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with pneumatocele formation, Candida(More)
Massively parallel sequencing technologies enable scientists to discover rare mutations, structural variants, and novel transcripts at an unprecedented rate. With this technology, sensitive detection(More)
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