Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
About this item
Full title
Author / Creator
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Rare, biallelic loss-of-function mutations in
DOCK8
result in a combined immune deficiency characterized by severe and recurrent cutaneous infections, eczema, allergies, and susceptibility to malignancy, as well as impaired humoral and cellular immunity and hyper-IgE. The advent of next-generation sequencing technologies has enabled the rapid...
Alternative Titles
Full title
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10461790
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10461790
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-021-01152-x
