Highlights: Whole exome sequencing identified the underlying defect in a patient with combined immunodeficiency.
A novel compound heterozygous DOCK8 mutation was identified.
Expression of a truncated DOCK8 protein with hypomorphic function was identified.
Somatic reversion of DOCK8 mainly in T cells was identified.
DOCK8 deficiency may present without severe viral infections and increased serum IgE levels.
Abstract: Loss of function mutations in DOCK8 are link...Expand abstract
- Publication status:
- Peer review status:
- Peer reviewed
- Publisher's version
- Copyright holder:
- Kienzler et al.
- Copyright © 2015 The Authors. Published by Elsevier Inc.