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Article

Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Feb 2016

Burbank Allison J, Shah Shaili N, Montgomery Maureen, Peden David, Tarrant Teresa K, Weimer Eric T

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Share to Computational Biology
Share to Databases, Genetic
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

Share to Homozygote

Share to Immunologic Deficiency Syndromes

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Source

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Identifiers

PMID: 26235511
DOI: 10.1111/pai.12451
PMCID: PMC4724217

Genes

DOCK8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.PMID 26235511Read ↗

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Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.Semantic proximity Read ↗

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Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 DeficiencySemantic proximity Read ↗

A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.Semantic proximity Read ↗

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.Semantic proximity Read ↗

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.Semantic proximity Read ↗

Exome diagnostics: already a reality?Semantic proximity Read ↗

Clinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.Semantic proximity Read ↗

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