Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper IgE
<p>Highlights: Whole exome sequencing identified the underlying defect in a patient with combined immunodeficiency.</p><p>A novel compound heterozygous DOCK8 mutation was identified.</p><p>Expression of a truncated DOCK8 protein with hypomorphic function was identified....
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Journal article |
| Published: |
Elsevier
2015
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