Whole exome sequencing identified the underlying defect in a patient with combined immunodeficiency.
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A novel compound heterozygous DOCK8 mutation was identified.
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Expression of a truncated DOCK8 protein with hypomorphic function was identified.
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Somatic reversion of DOCK8 mainly in T cells was identified.
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DOCK8 deficiency may present without severe viral infections and increased serum IgE levels.
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