DOCK8
HGNC:19191 · SaudiVarKB evidence summary derived from retained literature mentions.
18Gene mentions
18Publications
1Linked variants
6Associated phenotypes
Associated phenotypes
Co-mentioned in DOCK8 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| atopic dermatitis | — | 11 | 11 |
| lymphoma | — | 2 | 2 |
| asthma | — | 2 | 2 |
| cystic fibrosis | — | 1 | 1 |
| Duchenne muscular dystrophy | — | 1 | 1 |
| stroke | — | 1 | 1 |
Linked variants
Variants normalized to DOCK8| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.1498C>T | c.1498C>T | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 503 | 1 |
| Not specified | — | 108 | 1 |
| Not specified | — | 3 | 1 |
| Not specified | — | 81 | 1 |
Supporting publications
18 records- 2025Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry.Frontiers in geneticsPubMed ↗
- 2025Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.Frontiers in immunologyPubMed ↗
- 2025Dupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort.Frontiers in immunologyPubMed ↗
- 2024Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.The Journal of allergy and clinical immunologyPubMed ↗
- 2022Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.Frontiers in immunologyPubMed ↗
- 2021Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.Frontiers in allergyPubMed ↗
- 2020TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.Clinical and experimental immunologyPubMed ↗
- 2019Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.AllergyPubMed ↗
- 2019Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.The journal of allergy and clinical immunology. In practicePubMed ↗
- 2019Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.MetabolitesPubMed ↗
- 2019Electrochemical selection of a DNA aptamer, and an impedimetric method for determination of the dedicator of cytokinesis 8 by self-assembly of a thiolated aptamer on a gold electrode.Mikrochimica actaPubMed ↗
- 2018Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform.Biosensors & bioelectronicsPubMed ↗
- 2017Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation.Clinical immunology (Orlando, Fla.)PubMed ↗
- 2017DOCK8 Deficiency Presenting as an IPEX-Like Disorder.Journal of clinical immunologyPubMed ↗
- 2016CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report.BMC neurologyPubMed ↗
- 2014Grave aortic aneurysmal dilatation in DOCK8 deficiency.Modern rheumatologyPubMed ↗
- 2014Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency.Clinical immunology (Orlando, Fla.)PubMed ↗
- 2013Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.Journal of clinical immunologyPubMed ↗