Recombinant Human Dedicator of cytokinesis protein 8 (DOCK8), partial

1. EPAS1 links DOCK8 deficiency to atopic skin inflammation via IL-31 induction in CD4thorn T cells. PMID: 28067314
2. A novel DOCK8 sequence insertion caused primary immunodeficiency in two siblings from a consanguineous family. PMID: 26883462
3. DOCK8 deficiency may present severe immune dysregulation with features that may overlap with those of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and other IPEX-like disorders PMID: 29058101
4. Recent advances in the understanding of DOCK8 function are summarized, paying particular attention to an emerging role as a signaling intermediate to promote immune responses to diverse external stimuli. [Review] PMID: 28366940
5. In severe atopic eczema the dermatologist should initially suspect and document a mutation of DOCK8. PMID: 28065530
6. Our results suggest that decreased expression of DOCK8 in response to CRH might disturb the immunosuppressive function of Tregs and contribute to stress-induced aggravation of AD symptoms. PMID: 26799599
7. Sequence analysis identified two copies of missense mutation, c.4346C > T, in the coding region of the DOCK8 gene in a family with 3 patients with autosomal recessive Hyper-IgE syndrome. PMID: 27890707
8. Our results showed that DOCK8-deficient patients have a profound defect in TH17 differentiation related to decreased STAT3 phosphorylation, translocation to the nucleus, and transcriptional activity PMID: 27350570
9. The CD4+ T-cell compartment is greatly altered in the absence of DOCK8. Specifically, DOCK8-deficient patients have increased TH2 cells and defects in TH1 and TH17 cell differentiation PMID: 27554822
10. comparative study provides a long-term observation of DOCK8- and STAT3-hyper-IgE syndrome patients with regard to clinical and laboratory findings, and assesses the activation and cytokine secretion of lymphocytes after in vitro stimulation PMID: 26592211
11. mutations in Chinese patients with hyper-IgE syndrome PMID: 26659092
12. Letter/Case Report: DOCK8 homozygous mutation leading to primary immune deficiency. PMID: 26235511
13. DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels. PMID: 25724123
14. CD147 has a role in promoting Src-dependent activation of Rac1 signaling through STAT3/DOCK8 during the motility of hepatocellular carcinoma cells PMID: 25428919
15. DOCK8-regulated shape integrity of lymphocytes prevents cytothripsis and promotes antiviral immunity in the skin. PMID: 25422492
16. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells PMID: 25218284
17. Mutations of DOCK8 in three children, two of whom developed sclerosing cholangitis, are reported. PMID: 25220305
18. Hyper-IgE syndromes and atopic dermatitis patients showed different sensitization pattern of serum IgE corresponding to the allergic disease manifestations and Th-cell subset data, suggesting a key role of DOCK8 in the development of food allergy PMID: 24898675
19. This is a case of systemic lupus erythematosus with hyper-immunoglobulin E syndrome documented as DOCK8 deficiency. PMID: 25332498
20. Biallelic mutations in the DOCK8 gene cause autosomal-recessive hyper-IgE syndrome. PMID: 24698323
21. Two novel large deletions, del1-14 exons and del8-18 exons, of DOCK8 have been identified in two siblings with the adaptive immune deficiencies. PMID: 23859592
22. DOCK8 is required for the development and survival of mature NKT cells. PMID: 23929855
23. DOCK8 deficiency results in defective antibody responses and undirected plasma cell expansion in the lymph nodes, as part of a combined immunodeficiency cured by hematopoietic stem cell transplantation. PMID: 23891736
24. Clinical features of immunodeficiency syndrome are associated with DOCK8 mutations. (Review) PMID: 23911989
25. We used this new approach to analyse exome data from 24 patients with primary immunodeficiencies. Our analysis identified two novel causative deletions in the genes GATA2 and DOCK8 PMID: 22942019
26. Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity. PMID: 23455509
27. Three novel DOCK8 mutations and two large deletions are found in thirteen patients with autosomal recessive hyper-IgE syndrome in a single center experience. PMID: 22968740
28. DOCK8 deficiency results in severely impaired natural killer cell function because of an inability to form a mature lytic immunologic synapse through targeted synaptic F-actin accumulation PMID: 23380217
29. DOCK8 mediates an MyD88 signaling pathway essential for TLR9-driven B-cell proliferation aand immunoglobulin production. PMID: 22581261
30. DOCK8 encodes dedicator of cytokinesis 8. PMID: 22876580
31. DOCK8 deficiency (a newly described combined primary immunodeficiency disease) accounted for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. PMID: 22534316
32. Findings help to explain why DOCK8-deficient patients are susceptible to recurrent infections and provide new insights into how T-cell memory is sustained. PMID: 21969276
33. Rates of malignancy and overall mortality in patients with DOCK8 deficiency were higher than in those with Job's syndrome PMID: 21931011
34. These findings highlight a key role for DOCK8 in the survival and function of human and mouse CD8 T cells. PMID: 22006977
35. A 2-bp deletion at codon 510 in exon 14 causing a frameshift mutation was found in 3 homozygous siblings with Job syndrome and their heterozygous first-cousin parents. PMID: 21763205
36. DOCK8 deficiency and clinical manifestations of hyper IgE syndromes (Review) PMID: 21178271
37. Mutations in DOCK8 lead to DOCK8 immunodeficiency syndrome characterized by recurrent viral infections, severe atopy, and early onset malignancy. (Review) PMID: 21178272
38. Several AR-HIES patients have recently been shown to harbour mutations in the gene for dedicator of cytokinesis 8 (DOCK8). Here, we present the long-term outcome of a girl having received a hematopoietic stem cell graft. PMID: 21058221
39. Autosomal-recessive mutations in DOCK8 are responsible for many, although not all, cases of autosomal-recessive hyper-IgE syndrome. PMID: 20004785
40. involvement of DOCK8 in processes that affect the organisation of filamentous actin. PMID: 15304341
41. rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation PMID: 18060736
42. Under-expression of DOCK8 is associated with hepatocellular carcinoma. PMID: 19640199
43. Autosomal recessive DOCK8 deficiency is associated with a novel variant of combined immunodeficiency. PMID: 19776401

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HGNC: 19191

OMIM: 243700

KEGG: hsa:81704

STRING: 9606.ENSP00000408464

UniGene: Hs.132599