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Journal article

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper IgE

Abstract:

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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.clim.2015.12.003

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDM, NDM Experimental Medicine
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDM, NDM Experimental Medicine
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDM, NDM Experimental Medicine
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDM, NDM Experimental Medicine
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Publisher:
Elsevier Publisher's website
Journal:
Clinical Immunology Journal website
Volume:
163
Pages:
17-21
DOI:
EISSN:
1521-7035
ISSN:
1521-6616
URN:
uuid:a07f6864-cc27-4724-b28c-e15e8cd102e5
Source identifiers:
580090
Local pid:
pubs:580090

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