- Abstract:
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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:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's version
- Files:
-
-
(pdf, 886.8kb)
-
- Publisher copy:
- 10.1016/j.clim.2015.12.003
-
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- Publisher:
- Elsevier Publisher's website
- Journal:
- Clinical Immunology Journal website
- Volume:
- 163
- Pages:
- 17-21
- DOI:
- EISSN:
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1521-7035
- ISSN:
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1521-6616
- URN:
-
uuid:a07f6864-cc27-4724-b28c-e15e8cd102e5
- Source identifiers:
-
580090
- Local pid:
- pubs:580090
- Copyright holder:
- Kienzler et al.
- Notes:
- Copyright © 2015 The Authors. Published by Elsevier Inc.
Journal article
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper IgE
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