Affinage

DOCK8

Dedicator of cytokinesis protein 8 · UniProt Q8NF50

Length
2099 aa
Mass
238.5 kDa
Annotated
2026-06-09
100 papers in source corpus 31 papers cited in narrative 31 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

DOCK8 is a Cdc42-specific guanine nucleotide exchange factor that couples receptor and chemokine signals to actin-cytoskeletal remodeling, and it is essential for the survival, migration, and effector function of multiple leukocyte lineages (PMID:22461490, PMID:25422492). Catalysis is mediated by its DHR-2 domain, which activates Cdc42 at the leading-edge membrane, while its DHR-1 domain binds PI(4,5)P2 through a C2-like fold to recruit DOCK8 to the plasma membrane; mutating the phosphoinositide-binding residues abolishes Cdc42 activation and interstitial migration in vivo (PMID:22461490, PMID:33574036). In confined three-dimensional environments DOCK8, acting through Cdc42 and PAK, organizes a mechanosensitive central F-actin pool that protects cell and nuclear shape; its loss causes nuclear deformation, DNA damage, and migration-induced cell shattering (cytothripsis) rather than chemotaxis defects (PMID:25422492, PMID:40570086). DOCK8 physically bridges WIP to WASp to form a DOCK8–WIP–WASp module that links the TCR and BCR to F-actin assembly, immune synapse formation, and mechanotransduction, with downstream consequences for WASp-dependent CD19 transcription and BCR signaling (PMID:27599296, PMID:29472447). Beyond its actin role, DOCK8 serves as a signaling adaptor: it constitutively associates with MyD88 and Pyk2 to link TLR9 to a Lyn–Src–Syk–STAT3 cascade in B cells (PMID:22581261), controls IL-2–driven STAT5 phosphorylation in Tregs (PMID:28978795, PMID:28978806), and negatively regulates EPAS1 nuclear translocation in CD4+ T cells to restrain IL-31 and atopic skin inflammation (PMID:28067314). DOCK8 activity is tuned by PKCα-mediated phosphorylation that releases it from the inhibitor LRCH1 to permit leading-edge Cdc42 activation during directional migration (PMID:28028151). Loss-of-function studies in DOCK8-deficient patients and mice establish broad immunodeficiency affecting germinal center and marginal zone B cells, CD8 memory T cells, NKT cells, ILCs, NK cytotoxicity, and Treg fitness (PMID:19898472, PMID:22006977, PMID:23929855, PMID:28794229, PMID:33171169).

Mechanistic history

Synthesis pass · year-by-year structured walk · 25 steps
  1. 2004 Medium

    Established DOCK8 as a Cdc42-binding, DOCK180-like protein linked to actin organization, defining its molecular family and first functional hypothesis.

    Evidence Yeast two-hybrid screen and immunofluorescence in transfected cells

    PMID:15304341

    Open questions at the time
    • No GEF activity directly demonstrated
    • No physiological cell context
    • Localization based on overexpression
  2. 2009 High

    Showed DOCK8 is required in vivo for B cell humoral immunity, connecting it to immunological synapse function rather than core BCR signaling.

    Evidence ENU mutant mouse lines with germinal center, marginal zone, and synapse imaging readouts

    PMID:19898472

    Open questions at the time
    • Molecular mechanism linking DOCK8 to ICAM-1 synapse accumulation not defined
    • No biochemical activity established
  3. 2011 High

    Defined DOCK8 as a cell-autonomous regulator of T cell survival and memory persistence, distinguishing thymic from postthymic requirements.

    Evidence Mouse and human mutant cells, transfer experiments, influenza infection, LFA-1 polarization imaging

    PMID:21969276 PMID:22006977

    Open questions at the time
    • Mechanism of survival defect not resolved at signaling level
    • Link to GEF activity not yet established
  4. 2012 High

    Proved DOCK8 is a Cdc42-specific GEF whose DHR-2-mediated, spatially restricted Cdc42 activation is required for interstitial but not 2D migration.

    Evidence Knockout mice, domain-mutant rescue, and spatially resolved Cdc42 activity assays

    PMID:22461490

    Open questions at the time
    • How DOCK8 is recruited to the leading edge not yet defined
    • Downstream effectors of Cdc42 in migration not identified here
  5. 2012 High

    Revealed an actin-independent adaptor role linking TLR9-MyD88 to a tyrosine kinase cascade, broadening DOCK8 function beyond GEF activity.

    Evidence Reciprocal Co-IP, phosphorylation assays, and selective TLR9 vs CD40 functional defect in patient B cells

    PMID:22581261

    Open questions at the time
    • Whether adaptor function requires GEF activity untested
    • Structural basis of MyD88/Pyk2/Lyn binding unknown
  6. 2013 High

    Extended the survival requirement to NKT cell differentiation and persistence, implicating prosurvival factor regulation.

    Evidence Mouse KO subset analysis with Bcl-2 readouts, validated in patients

    PMID:23929855

    Open questions at the time
    • Mechanism linking DOCK8 to Bcl-2 levels unknown
    • Whether defect is migration- or signaling-driven unresolved
  7. 2014 High

    Identified the central mechanism of DOCK8 immunodeficiency: a Cdc42-PAK-dependent program protecting migrating cells from cytothripsis in confined tissue.

    Evidence Live imaging of confined migration in patient and mouse cells with in vivo herpesvirus skin model

    PMID:25422492

    Open questions at the time
    • Molecular link from Cdc42-PAK to cytoskeletal protection incomplete
    • Nuclear deformation mechanism not yet defined
  8. 2014 High

    Showed DOCK8 supports ILC survival and STAT3-dependent cytokine output, connecting it to mucosal antimicrobial defense.

    Evidence KO mice, Citrobacter infection, RNA-seq, IL-7 and STAT3 signaling assays

    PMID:25091235

    Open questions at the time
    • Direct molecular link between DOCK8 and STAT3/IL-7 signaling unclear
  9. 2016 High

    Placed DOCK8 in the same TCR-to-actin pathway as WASp by demonstrating a DOCK8-WIP-WASp complex whose GEF activity drives F-actin assembly and mechanotransduction.

    Evidence Co-IP, GEF-dead rescue, actin and synapse imaging, transendothelial migration and lymph node homing in patient T cells

    PMID:27599296

    Open questions at the time
    • Stoichiometry and assembly order of the DOCK8-WIP-WASp complex unresolved
  10. 2016 High

    Defined a Cdc42-MRCK-myosin axis for DOCK8 in macrophage migration via the LRAP35a adaptor, showing GEF activity (not scaffolding alone) is required.

    Evidence GEF-activity rescue, Co-IP, interaction-disruption, and myosin RLC phosphorylation assays in macrophages

    PMID:28028174

    Open questions at the time
    • Whether this axis operates in lymphocytes untested
    • Direct LRAP35a binding interface not mapped
  11. 2016 Medium

    Identified an Nck1-binding proline-rich motif coupling DOCK8 to PDGF-driven Schwann cell precursor migration and Rho GTPase activation outside the immune system.

    Evidence siRNA knockdown, SH3-proline motif pulldown, domain-mutant rescue, migration and GTPase assays

    PMID:28955869

    Open questions at the time
    • Single lab, non-immune context
    • Which Rho GTPase is activated not precisely defined
  12. 2017 High

    Discovered DOCK8 is held inactive by LRCH1 and released by PKCα phosphorylation, providing the spatial control mechanism for leading-edge Cdc42 activation.

    Evidence Competition binding, PKCα phosphosite mutagenesis, and EAE mouse models

    PMID:28028151

    Open questions at the time
    • Upstream signals activating PKCα in this context not fully defined
    • Phosphosite dynamics in vivo not resolved
  13. 2017 High

    Defined DOCK8 as a negative regulator of EPAS1 nuclear translocation, linking its loss to IL-31-driven atopic skin disease.

    Evidence DOCK8 KO mice, conditional EPAS1 deletion rescue, promoter activation and nuclear translocation assays

    PMID:28067314

    Open questions at the time
    • Biochemical mechanism by which DOCK8 retains EPAS1 in cytoplasm not defined
  14. 2017 High

    Established DOCK8 as essential for Treg fitness, synapse stability, and IL-2/STAT5 signaling, explaining its multiorgan autoimmunity phenotype.

    Evidence Treg-specific conditional KO, Co-IP DOCK8-STAT5, STAT5 phosphorylation, synapse imaging, CD86 transendocytosis

    PMID:28978795 PMID:28978806

    Open questions at the time
    • Direct vs indirect basis of DOCK8-STAT5 association unclear
    • How actin and STAT5 roles intersect in Tregs unresolved
  15. 2017 High

    Showed DOCK8 controls NK cytotoxicity and cytokine output via proximal Src-family (Lck) kinase activation downstream of activating receptors.

    Evidence Knockdown and patient NK cells, Src/Lck activation assays, PMA/ionomycin rescue

    PMID:28794229

    Open questions at the time
    • Mechanism coupling DOCK8 to Src-family kinase activation not defined
  16. 2018 High

    Connected DOCK8 to BCR signaling strength through WASp-dependent CD19 transcription, explaining impaired memory B cell activation.

    Evidence KO mice and patient PBMCs, TIRF/confocal imaging, pCD19/pBtk and WASP activation assays

    PMID:29472447

    Open questions at the time
    • Transcriptional link between WASP and CD19 not mechanistically dissected in this system
  17. 2020 High

    Showed DOCK8 positions Tfh cells in germinal centers via LFA-1 activation, accounting for impaired T-dependent antibody responses.

    Evidence T cell-selective KO, intravital imaging, LFA-1 activation and ICAM-1 binding assays

    PMID:32573493

    Open questions at the time
    • Signaling link from TCR to DOCK8-dependent LFA-1 activation not fully defined
  18. 2020 High

    Revealed that migration-induced shattering of DOCK8-deficient phagocytes releases IL-1β to drive a GM-CSF/TH2 skew, linking the cytothripsis mechanism to allergic immunopathology.

    Evidence Dock8-/- mice, Cryptococcus infection, IL-1β/GM-CSF/caspase blockade and apoptotic cell transfer

    PMID:33020661

    Open questions at the time
    • Whether this circuit operates in human DOCK8 deficiency untested directly
  19. 2020 High

    Demonstrated DOCK8 maintains Treg stability in inflamed skin, preventing conversion to pathogenic ex-Tregs.

    Evidence Treg-specific KO, oxazolone CHS model, bidirectional Treg transfer

    PMID:33171169

    Open questions at the time
    • Molecular driver of Treg destabilization downstream of DOCK8 loss unclear
  20. 2021 High

    Provided the structural basis for membrane recruitment by showing the DHR-1 C2-like domain stereospecifically binds PI(4,5)P2, required for Cdc42 activation and migration.

    Evidence Crystal structure, in vitro phosphoinositide binding, K576A/R581A mutagenesis, 3D and in vivo migration assays

    PMID:33574036

    Open questions at the time
    • How DHR-1 lipid binding and DHR-2 catalysis are spatially coordinated not resolved
  21. 2021 High

    Showed DOCK8 negatively regulates intestinal ILC2 expansion through its Cdc42-activating catalytic center, defining a GEF-dependent restraint on type-2 immunity.

    Evidence Hematopoietic-specific deletion and DOCK8VAGR catalytic mutant mice with CyTOF phenotyping

    PMID:33940384

    Open questions at the time
    • Cell-intrinsic vs extrinsic basis of ILC2 restraint not fully separated
  22. 2021 High

    Established a B cell-intrinsic Treg-mediated barrier to allergic skin inflammation, including responses to cutaneous S. aureus.

    Evidence Treg-inducible deletion, OVA and S. aureus skin models, adoptive Treg transfer rescue

    PMID:38185418

    Open questions at the time
    • Mechanism of DOCK8-dependent inducible Treg stability not molecularly defined
  23. 2023 High

    Linked DOCK8 to metabolic fitness, showing it sustains long-lived gut IgA+ plasma cells through cellular respiration and glycolysis rather than early activation.

    Evidence B cell-specific KO, interactome mass spectrometry, Seahorse bioenergetics, immunization/infection models

    PMID:38159726

    Open questions at the time
    • Which interactome partners mediate the metabolic phenotype not validated functionally
  24. 2024 High

    A patient-derived CRISPR knock-in confirmed DOCK8's role in BCR signaling via WASP activation and revealed dysregulated c-Myc-driven glycolysis in B cells.

    Evidence CRISPR knock-in mouse, BCR signaling and WASP activation assays, TIRF imaging, glycolysis assays

    PMID:39616183

    Open questions at the time
    • Link between WASP signaling and c-Myc/glycolysis not mechanistically connected
  25. 2025 High

    Identified a mechanosensitive central F-actin pool, dependent on DOCK8 and Mst1, that protects the nucleus from confinement-induced DNA damage and senescence.

    Evidence KO mouse and patient T cells, live imaging under confinement, DNA damage and senescence assays, Mst1 genetics

    PMID:40570086

    Open questions at the time
    • How Mst1 and DOCK8 mechanistically cooperate to build the central actin pool not resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How DOCK8's GEF/cytoskeletal functions and its distinct adaptor/transcriptional-regulatory functions are integrated within a single cell, and the structural basis of its non-GEF protein interactions, remain unresolved.
  • No unified model connecting actin-dependent and adaptor roles
  • Structural basis of MyD88, STAT5, and EPAS1 interactions undefined
  • Whether adaptor functions require GEF activity largely untested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 4 GO:0060090 molecular adaptor activity 4 GO:0098772 molecular function regulator activity 4 GO:0008289 lipid binding 1
Localization
GO:0005886 plasma membrane 3 GO:0005856 cytoskeleton 2 GO:0005829 cytosol 1
Pathway
R-HSA-168256 Immune System 6 R-HSA-162582 Signal Transduction 3 R-HSA-9609507 Protein localization 3
Complex memberships
DOCK8–WIP–WASp complex

Evidence

Reading pass · 31 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 DOCK8 was identified in a yeast two-hybrid screen as a Cdc42-interacting protein with similarity to DOCK180. Immunofluorescence showed that HA-tagged and endogenous DOCK8 localizes to cell edges at sites of lamellipodia formation. Transfection of a C-terminal fragment caused formation of vesicular structures containing filamentous actin, implicating DOCK8 in regulation of filamentous actin organization. Yeast two-hybrid screen, immunofluorescence, transient transfection FEBS letters Medium 15304341
2009 DOCK8 mutations in mice abolish formation of marginal zone B cells and germinal center B cell persistence, preventing affinity maturation. DOCK8 mutations specifically disrupted accumulation of the integrin ligand ICAM-1 in the B cell immunological synapse but did not alter other aspects of B cell antigen receptor signaling. Mouse genetic screen (ENU mutagenesis), loss-of-function mouse model, immunological synapse imaging, flow cytometry Nature immunology High 19898472
2012 DOCK8 is a Cdc42-specific guanine nucleotide exchange factor (GEF) required for interstitial dendritic cell migration. DOCK8-deficient DCs failed to accumulate in lymph node parenchyma, could not crawl in 3D fibrillar networks or transmigrate through the subcapsular sinus floor, but migrated normally on 2D surfaces. This function depended on the DHR-2 domain mediating Cdc42 activation. Spatial Cdc42 activation at the leading edge membrane (not global Cdc42 activity) was impaired in DOCK8-deficient DCs. DOCK8 knockout mice, 2D and 3D migration assays, domain mutant rescue experiments, Cdc42 activity assays (global and spatially resolved) Blood High 22461490
2012 DOCK8 functions as an adaptor in TLR9-MyD88 signaling in B cells. DOCK8 constitutively associates with MyD88 and the tyrosine kinase Pyk2. After TLR9 ligation, DOCK8 is tyrosine-phosphorylated by Pyk2, then binds the Src-family kinase Lyn, linking TLR9 to a Src-Syk-STAT3 cascade essential for TLR9-driven B cell proliferation and differentiation. TLR9-driven B cell activation was impaired in DOCK8-deficient patients, while CD40-driven activation was not. Co-immunoprecipitation, phosphorylation assays, DOCK8-deficient patient B cells, selective functional assays (TLR9 vs CD40 stimulation) Nature immunology High 22581261
2011 DOCK8 is required cell-autonomously for peripheral CD8 T cell survival and function. DOCK8 mutation diminished naive CD8 T cell abundance, shortened naive CD8 T cell lifespan, impaired LFA-1 synaptic polarization upon DC encounter, delayed first cell division, and greatly reduced memory cell persistence after infection. These defects were established as postthymic and cell-autonomous in both mice and humans. DOCK8-mutant mice and human patient cells, cell transfer experiments (cell autonomy), in vivo influenza infection, LFA-1 polarization imaging, lifespan analysis The Journal of experimental medicine High 22006977
2011 DOCK8 deficiency in mice causes T cell lymphopenia with increased T cell turnover and decreased survival. Egress of mature CD4+ thymocytes is reduced with increased migration toward CXCL12. DOCK8 is limiting specifically for the survival of CD8+ memory T cells after viral infection, not for the primary CD8 response. DOCK8-deficient mouse analysis, flow cytometry, chemokine migration assays, influenza infection model European journal of immunology High 21969276
2014 DOCK8, through CDC42 and p21-activated kinase (PAK), coordinates cytoskeletal structures during lymphocyte migration through confined, collagen-dense spaces. DOCK8-deficient T and NK cells develop cell shape and nuclear deformation abnormalities leading to cytothripsis (migration-induced catastrophic cell death) without impairing chemotaxis. This prevents generation of long-lived skin-resident memory CD8 T cells and impairs herpesvirus skin infection control. DOCK8-deficient patient and mouse cells, live imaging of lymphocyte migration through confined spaces, collagen matrix migration assays, in vivo herpesvirus skin infection model, resident memory T cell quantification The Journal of experimental medicine High 25422492
2016 DOCK8 bridges WASp-interacting protein (WIP) to WASp and actin in T cells, forming a DOCK8-WIP-WASp complex. The GEF activity of DOCK8 is essential for subcortical actin cytoskeleton integrity, TCR-driven WASp activation, F-actin assembly, immune synapse formation, actin foci formation, mechanotransduction, T cell transendothelial migration, and homing to lymph nodes — all of which also depend on WASp, placing DOCK8 and WASp in the same TCR-to-actin signaling pathway. Co-immunoprecipitation, DOCK8-deficient patient T cells, GEF-dead mutant rescue, actin assembly assays, immune synapse imaging, transendothelial migration assay, in vivo lymph node homing The Journal of clinical investigation High 27599296
2013 DOCK8 deficiency impairs NKT cell development, specifically affecting formation and survival of long-lived, differentiated NK1.1+ NKT cells expressing CD103 in the thymus. DOCK8-deficient NKT cells in the liver express reduced levels of the prosurvival factor Bcl-2 and LFA-1. Initial NKT cell response to antigen is intact but ongoing proliferative and cytokine responses are impaired. DOCK8-deficient mouse model, flow cytometry (thymic and hepatic NKT cell subsets), Bcl-2 expression analysis, antigen response assays, validation in DOCK8-deficient humans Blood High 23929855
2015 DOCK8 is absolutely required for dendritic cell migration during immune responses. Coincidental loss of DOCK8 in NLRP10-deficient mice (due to an unexpected Dock8 mutation) was shown by whole-exome sequencing and confirmed by targeted deletion: isolated DOCK8 deficiency recapitulates the DC migration defect. C3H/HeJ mice also harbor a Dock8 mutation that partially impairs DC migration. Proteomic screen, whole-exome sequencing, targeted Dock8 deletion, in vivo DC migration assays Proceedings of the National Academy of Sciences of the United States of America High 25713392
2016 DOCK8 is a Cdc42-specific GEF required for macrophage migration in a 2D setting. The GEF activity of DOCK8 (not merely protein scaffolding) is required for macrophage migration. DOCK8 associates with LRAP35a, an adaptor that binds the Cdc42 effector MRCK, and facilitates MRCK phosphorylation of myosin II regulatory light chain. Disrupting the DOCK8-LRAP35a interaction in WT macrophages recapitulates the DOCK8-deficient migration defect. DOCK8-deficient macrophages, GEF-activity rescue experiments, co-immunoprecipitation, LRAP35a interaction-disruption experiments, myosin RLC phosphorylation assays The Journal of biological chemistry High 28028174
2017 LRCH1 competes with Cdc42 for interaction with DOCK8, restraining T cell migration. In response to chemokine stimulation, PKCα phosphorylates DOCK8 at three serine sites, promoting DOCK8 separation from LRCH1 and translocation to the leading edge to guide T cell migration. Point mutations at DOCK8 serine sites block chemokine- and PKCα-induced T cell migration. Two screening systems (protein interaction screens), competition binding assays, PKCα phosphorylation assays, site-directed mutagenesis of DOCK8 serine sites, Dock8-mutant and Lrch1-transgenic/knockout mouse EAE models The Journal of experimental medicine High 28028151
2017 DOCK8 is a negative regulator of nuclear translocation of the transcription factor EPAS1 in CD4+ T cells, acting as an adaptor. In DOCK8-deficient CD4+ T cells, EPAS1 translocates to the nucleus and drives IL-31 expression by activating the Il31 promoter in collaboration with SP1 (not ARNT). IL-31 induction drives atopic skin inflammation. Conditional deletion of EPAS1 in CD4+ T cells abrogates skin disease in DOCK8-deficient mice. DOCK8-deficient mouse model, conditional EPAS1 deletion, IL-31 production assays, promoter activation assays, nuclear translocation imaging Nature communications High 28067314
2017 DOCK8 regulates Treg fitness and function via IL-2 signaling in a STAT5-dependent manner. Treg-specific DOCK8 deletion caused spontaneous multiorgan inflammation. DOCK8-deficient Tregs are defective in competitive fitness and in vivo suppressive function. DOCK8 controls IL-2-driven STAT5 phosphorylation in Tregs. Conditional Treg-specific DOCK8 knockout mice, STAT5 phosphorylation assays, competitive fitness assays, in vivo suppression assays JCI insight High 28978795
2017 DOCK8 associates with STAT5 and is required for IL-2-driven STAT5 phosphorylation in Tregs. DOCK8 localizes within the lamellar actin ring of the Treg immune synapse (IS). DOCK8-deficient Tregs have abnormal TCR-driven actin dynamics, decreased adhesiveness, an unstable IS with decreased recruitment of signaling molecules, and impaired transendocytosis of CD86. Mice with selective DOCK8 deficiency in Tregs develop lymphoproliferation, autoantibodies, and gastrointestinal inflammation. DOCK8-Treg conditional knockout mice, Co-IP (DOCK8-STAT5 association), STAT5 phosphorylation assays, IS imaging, actin dynamics assays, CD86 transendocytosis assay JCI insight High 28978806
2017 DOCK8 regulates NK cell cytotoxicity and cytokine production via Src family kinase (particularly Lck) activation downstream of target cell engagement or NKp30 ligation. Genetic ablation of DOCK8 in human NK cells attenuated cytokine transcription and secretion through inhibition of Src family kinase activation. PMA/ionomycin rescued cytokine production in DOCK8-deficient NK cells, indicating the defect is proximal to receptor ligation. DOCK8 knockdown in human NK cells, DOCK8-deficient patient NK cells, cytokine production assays, Src/Lck kinase activation assays, PMA/ionomycin rescue experiments Journal of immunology High 28794229
2016 DOCK8 interacts with Nck1 via its unique N-terminal proline-rich motif binding the SH3 domain of Nck1 to promote PDGF-induced Schwann cell precursor migration. Knockdown of Dock8 or Nck1 markedly decreased PDGF-induced cell migration and Rho GTPase activation. Reintroduction of a proline-rich motif mutant of Dock8 failed to restore migration, while wild-type Dock8 restored it. siRNA knockdown, Co-IP/pulldown (proline-rich motif – SH3 interaction), domain mutant rescue, cell migration assays, Rho GTPase activation assays Biochemistry and biophysics reports Medium 28955869
2018 DOCK8 regulates BCR signaling by controlling cd19 transcription via WASP. DOCK8-deficient B cells show reduced total WASP protein and reduced WASP activation; since WASP positively regulates CD19 transcription, reduced DOCK8 leads to decreased CD19 and impaired upstream BCR signaling (pCD19 and pBtk). DOCK8 deficiency disrupts early activation of memory B cells, including reduced BCR clustering, B cell spreading, and signalosome recruitment. DOCK8 knockout mouse model, DOCK8-deficient patient PBMCs, confocal microscopy, TIRF microscopy, BCR signaling assays (pCD19, pBtk), WASP expression and activation assays Blood advances High 29472447
2019 DOCK8 is expressed in microglia and its expression increases during neuroinflammation. DOCK8-deficient mice exhibit reduced microglial migration through retinal layers in a model of MS/optic neuritis, and reduced severity of neuroinflammation. In a glaucoma model, DOCK8-deficient mice show impaired microglial phagocytosis of retinal ganglion cells. DOCK8-deficient mice, retinal immunofluorescence, disease models (optic neuritis and glaucoma), microglial migration and phagocytosis assays The Journal of biological chemistry Medium 31337702
2020 DOCK8-deficient CX3CR1+ mononuclear phagocytes are exquisitely sensitive to migration-induced cell shattering, releasing IL-1β. This IL-1β drives GM-CSF production by CD4+ T cells, resulting in a TH2 cell bias. Blocking IL-1β, GM-CSF, or caspase activation eliminated the type-2 skew in Dock8-/- mice. Dock8-/- mice, Cryptococcus neoformans pulmonary infection model, IL-1β and GM-CSF blocking experiments, caspase inhibition, apoptotic cell transfer experiments Nature immunology High 33020661
2020 DOCK8 is essential for LFA-1-dependent positioning of T follicular helper (Tfh) cells in germinal centers. Mice with T cell-selective DOCK8 deficiency had impaired IgG responses to T cell-dependent antigens, decreased GC size, and reduced GC B cells, despite normal Tfh numbers. Migration of DOCK8-deficient T cells into GCs was defective. Following TCR/CD3 ligation, DOCK8-deficient T cells showed impaired LFA-1 activation and reduced ICAM-1 binding. T cell-selective DOCK8 knockout mice, in vivo GC analysis, DOCK8-deficient T cell-B cell co-culture, LFA-1 activation assays, ICAM-1 binding assays, intravital imaging JCI insight High 32573493
2021 The DHR-1 domain of DOCK8 binds specifically to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and is required for DOCK8 recruitment to the plasma membrane. Crystal structure and biochemical analyses revealed a C2 domain-like core with a pocket containing three basic residues for stereospecific phosphoinositide recognition. Substitution of K576 and R581 with alanine abolished PI(4,5)P2 binding in vitro, ablated Cdc42 activation, and impaired leukocyte migration in 3D collagen gels. Dendritic cells carrying the mutation exhibited defective interstitial migration in vivo. Crystal structure of DHR-1 domain, in vitro phosphoinositide binding assays, site-directed mutagenesis (K576A/R581A), 3D migration assays, in vivo DC migration assay Life science alliance High 33574036
2021 DOCK8 deficiency in Tregs increases susceptibility to allergic skin inflammation and eczema. DOCK8 is important for Treg stability at sites of allergic inflammation and for generation, survival, and suppressive activity of inducible Tregs. Adoptive transfer of WT but not DOCK8-deficient OVA-specific inducible Tregs suppressed allergic inflammation in sensitized Dock8-/- mice. Cutaneous Staphylococcus aureus exposure in DOCK8-deficient mice caused severe allergic inflammation and elevated IgE attenuated by WT Treg transfer. Dock8-/- mice, Treg-specific inducible Dock8 deletion, epicutaneous OVA sensitization model, S. aureus topical exposure model, adoptive Treg transfer, skin biopsy histology and gene expression The Journal of allergy and clinical immunology High 38185418
2014 DOCK8 deficiency impairs RORγt+ ILC survival and function. DOCK8-deficient RORγt+ ILCs are less responsive to IL-7-mediated signaling, more prone to apoptosis, produce less IL-22, and have defective IL-23-mediated STAT3 phosphorylation. DOCK8 deficiency leads to susceptibility to Citrobacter rodentium infection associated with impaired antimicrobial peptide induction in the colon. Dock8-deficient mice, Citrobacter rodentium infection model, RNA-seq, IL-7 signaling assays, STAT3 phosphorylation assays, apoptosis assays Nature communications High 25091235
2015 DOCK8 deficiency in CD147-overexpressing hepatocellular carcinoma cells: CD147 upregulates pY416-Src via FAK, Src promotes STAT3 phosphorylation, STAT3 facilitates DOCK8 transcription enhancing DOCK8 expression, and DOCK8 acts as a GEF for Rac1 to drive mesenchymal-type cell movement. Confocal microscopy, Rac1 activity assay, Src/STAT3 phosphorylation assays, DOCK8 overexpression/knockdown, transcription assays Oncotarget Medium 25428919
2021 DOCK8 deficiency causes a skewing to type 2 immunity in the gut with expansion of ILC2s. Intestinal ILC2 expansion occurs when DOCK8 expression is deleted in hematopoietic cells. Mice carrying mutations in the catalytic center of DOCK8 (DOCK8VAGR, failing to activate Cdc42) also show intestinal ILC2 expansion, indicating that DOCK8 negatively regulates intestinal ILC2s via Cdc42 activation. Dock8-/- mice, hematopoietic-specific Dock8 deletion, DOCK8 catalytic mutant (VAGR) mice, CyTOF high-dimensional phenotyping, ILC2 quantification Biochemical and biophysical research communications High 33940384
2023 DOCK8 is required for the metabolic fitness and long-term survival of IgA+ plasma cells in the gut lamina propria. B cell-intrinsic DOCK8 is required for maintenance of antigen-specific IgA-secreting plasma cells. DOCK8 deficiency is not required for early B cell activation, migration, or IgA class switching. An interactome screen revealed DOCK8 protein partners involved in metabolism and apoptosis; Dock8-deficient IgA+ B cells have impaired cellular respiration and fail to engage glycolysis appropriately. Dock8-deficient mice, B cell-specific deletion, immunization and infection models, unbiased interactome screen (mass spectrometry), cellular respiration and glycolysis assays (Seahorse) Mucosal immunology High 38159726
2025 DOCK8-deficient activated T cells lack a central pool of F-actin that is present in wild-type murine and human T cells. This central actin pool is mechanosensitive and forms only under confinement. Loss of the central actin pool in Dock8-deficient T cells results in greater nuclear deformation, DNA damage accrual, and premature cell senescence. Mst1 kinase was identified as a necessary component of this mechanosensitive pathway alongside DOCK8. Dock8 knockout mice, human patient T cells, confocal and live imaging of F-actin under confinement, DNA damage assays, cell senescence assays, Mst1 genetic analysis Science immunology High 40570086
2016 DOCK8 interacts with septin 7 and integrin-linked kinase (ILK) in primary blood-derived lymphocytes as identified by interaction proteomics. In equine recurrent uveitis (autoimmune disease model), DOCK8 expression and its interaction network are significantly altered. Interaction proteomics (Co-IP + mass spectrometry), flow cytometry for expression, equine autoimmune uveitis model Scientific reports Low 30120291
2020 DOCK8 expression in Tregs limits contact hypersensitivity by promoting Treg stability and fitness in inflamed skin. Lack of DOCK8 in Tregs resulted in their acquisition of a pathogenic FOXP3+T-bet+IFNγ+ phenotype at CHS sites and promoted conversion into ex-Tregs. Transfer of Dock8-/- Tregs increased the CHS response of WT recipients, while WT Tregs suppressed it. Dock8-/- mice, T cell- and Treg-specific DOCK8 knockout, oxazolone CHS model, oral tolerance assays, Treg transfer experiments, flow cytometry phenotyping The Journal of investigative dermatology High 33171169
2024 DOCK8 mutation (exon 45, c.5846C>A) generated by CRISPR/Cas9 in mice inhibits splenic MZ and GC B cell development and cripples BCR signaling. The reduced BCR signaling was related to decreased B cell spreading, BCR clustering, and signalosomes, mediated by inhibited activation of WASP. Additionally, DOCK8 mutation led to increased c-Myc expression in B cells, enhancing glycolysis. CRISPR/Cas9 knock-in mouse model (patient-derived point mutation), flow cytometry, BCR signaling assays, confocal/TIRF microscopy, WASP activation assays, metabolic (glycolysis) assays Cell death & disease High 39616183

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2009 Combined immunodeficiency associated with DOCK8 mutations. The New England journal of medicine 559 19776401
2009 Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. The Journal of allergy and clinical immunology 404 20004785
2015 DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. Journal of clinical immunology 233 25627830
2009 Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nature immunology 217 19898472
2012 DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood 199 22461490
2012 DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nature immunology 182 22581261
2011 DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. The Journal of experimental medicine 169 22006977
2014 DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. The Journal of experimental medicine 143 25422492
2017 DOCK8 deficiency: Insights into pathophysiology, clinical features and management. Clinical immunology (Orlando, Fla.) 132 28625885
2011 Cutaneous manifestations of DOCK8 deficiency syndrome. Archives of dermatology 108 21931011
2011 DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory. European journal of immunology 100 21969276
2016 A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton. The Journal of clinical investigation 98 27599296
2010 Dedicator of cytokinesis 8 (DOCK8) deficiency. Current opinion in allergy and clinical immunology 93 20864884
2004 Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology. FEBS letters 91 15304341
2014 Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern. Allergy 85 24898675
2012 Additional diverse findings expand the clinical presentation of DOCK8 deficiency. Journal of clinical immunology 79 22476911
2010 Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klinische Padiatrie 69 21058221
2018 Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency. The journal of allergy and clinical immunology. In practice 68 30391550
2015 Coincidental loss of DOCK8 function in NLRP10-deficient and C3H/HeJ mice results in defective dendritic cell migration. Proceedings of the National Academy of Sciences of the United States of America 68 25713392
2017 The transcription factor EPAS1 links DOCK8 deficiency to atopic skin inflammation via IL-31 induction. Nature communications 65 28067314
2013 DOCK8 is critical for the survival and function of NKT cells. Blood 65 23929855
2010 Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Disease markers 64 21178272
2011 DOCK8 deficiency. Annals of the New York Academy of Sciences 61 22236427
2019 Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. Immunological reviews 59 30565250
2012 Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients. Journal of clinical immunology 59 22968740
2017 DOCK8 regulates signal transduction events to control immunity. Cellular & molecular immunology 53 28366940
2011 Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clinical immunology (Orlando, Fla.) 50 21763205
2015 Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 43 25636378
2006 Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer. International journal of oncology 43 16391785
2017 LRCH1 interferes with DOCK8-Cdc42-induced T cell migration and ameliorates experimental autoimmune encephalomyelitis. The Journal of experimental medicine 40 28028151
2015 CD147 promotes Src-dependent activation of Rac1 signaling through STAT3/DOCK8 during the motility of hepatocellular carcinoma cells. Oncotarget 39 25428919
2014 DOCK8 regulates protective immunity by controlling the function and survival of RORγt+ ILCs. Nature communications 39 25091235
2017 DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling. JCI insight 38 28978795
2017 DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs. JCI insight 37 28978806
2017 DOCK8 Deficiency Presenting as an IPEX-Like Disorder. Journal of clinical immunology 37 29058101
2012 Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen. Pediatric hematology and oncology 34 22897717
2021 Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency. The Journal of clinical investigation 33 33290277
2021 Treatment options for DOCK8 deficiency-related severe dermatitis. The Journal of dermatology 33 34043252
2019 Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients. JCI insight 33 31021819
2016 Recent Advances in DOCK8 Immunodeficiency Syndrome. Journal of clinical immunology 31 27207373
2010 DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction. Disease markers 29 21178274
2010 Frequent silence of chromosome 9p, homozygous DOCK8, DMRT1 and DMRT3 deletion at 9p24.3 in squamous cell carcinoma of the lung. International journal of oncology 27 20596660
2020 Migration-induced cell shattering due to DOCK8 deficiency causes a type 2-biased helper T cell response. Nature immunology 26 33020661
2014 Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency. Clinical immunology (Orlando, Fla.) 26 24743019
2013 Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. Clinical immunology (Orlando, Fla.) 26 24440647
2019 DOCK8 is expressed in microglia, and it regulates microglial activity during neurodegeneration in murine disease models. The Journal of biological chemistry 25 31337702
2016 DOCK8 Protein Regulates Macrophage Migration through Cdc42 Protein Activation and LRAP35a Protein Interaction. The Journal of biological chemistry 25 28028174
2021 Oral anaphylaxis to peanut in a mouse model is associated with gut permeability but not with Tlr4 or Dock8 mutations. The Journal of allergy and clinical immunology 22 34051223
2019 Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery. Metabolites 22 31718082
2018 Dock8 regulates BCR signaling and activation of memory B cells via WASP and CD19. Blood advances 22 29472447
2020 Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 21 32108967
2016 CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report. BMC neurology 21 27113444
2010 The essential role of DOCK8 in humoral immunity. Disease markers 21 21178273
2014 Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy. Journal of clinical immunology 20 25388448
2019 ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients. Allergy 19 31596517
2017 DOCK8 Drives Src-Dependent NK Cell Effector Function. Journal of immunology (Baltimore, Md. : 1950) 19 28794229
2020 DOCK8 is essential for LFA-1-dependent positioning of T follicular helper cells in germinal centers. JCI insight 17 32573493
2015 Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE. Clinical immunology (Orlando, Fla.) 17 26680607
2015 Delayed control of herpes simplex virus infection and impaired CD4(+) T-cell migration to the skin in mouse models of DOCK8 deficiency. Immunology and cell biology 16 25776845
2014 Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus. Pediatrics 16 25332498
2024 Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency. The Journal of allergy and clinical immunology 15 38185418
2016 DOCK8: regulator of Treg in response to corticotropin-releasing hormone. Allergy 15 26799599
2016 Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation. Clinical immunology (Orlando, Fla.) 15 27890707
2017 Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2. Dermatologic clinics 14 27890234
2016 Dock8 interacts with Nck1 in mediating Schwann cell precursor migration. Biochemistry and biophysics reports 14 28955869
2014 A 17-year old patient with DOCK8 deficiency, severe oral HSV-1 and aggressive periodontitis - a case of virally induced periodontitis? Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology 14 25600604
2018 Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders. Scientific reports 13 29930340
2018 Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients. Allergy 13 30252138
2017 Hematopoietic stem cell transplantation from unrelated donors in children with DOCK8 deficiency. Pediatric transplantation 13 28664550
2013 Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis. Clinical immunology (Orlando, Fla.) 13 23891736
2021 Refractory and Fatal Presentation of Severe Autoimmune Hemolytic Anemia in a Child With the DNASE1L3 Mutation Complicated With an Additional DOCK8 Variant. Journal of pediatric hematology/oncology 12 32205782
2021 DOCK8 deficiency causes a skewing to type 2 immunity in the gut with expansion of group 2 innate lymphoid cells. Biochemical and biophysical research communications 12 33940384
2020 DOCK8 Expression in Regulatory T Cells Maintains their Stability and Limits Contact Hypersensitivity. The Journal of investigative dermatology 12 33171169
2018 Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity. Scientific reports 12 30120291
2018 Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. Scientific reports 12 30425284
2021 A conserved PI(4,5)P2-binding domain is critical for immune regulatory function of DOCK8. Life science alliance 11 33574036
2015 Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits. European journal of medical genetics 11 26656975
2019 Tandem Orthotopic Living Donor Liver Transplantation Followed by Same Donor Haploidentical Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency. Transplantation 10 30720689
2019 Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma. Journal of clinical immunology 10 31267431
2018 Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience. Clinical immunology (Orlando, Fla.) 10 30048691
2025 A Dock8-dependent mechanosensitive central actin pool maintains T cell shape and protects the nucleus during migration. Science immunology 9 40570086
2016 Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis. Molecular cytogenetics 9 27891178
2015 A novel Dock8 gene mutation confers diabetogenic susceptibility in the LEW.1AR1/Ztm-iddm rat, an animal model of human type 1 diabetes. Diabetologia 9 26363782
2014 Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients. Clinical immunology (Orlando, Fla.) 9 24674883
2024 DOCK8 gene mutation alters cell subsets, BCR signaling, and cell metabolism in B cells. Cell death & disease 8 39616183
2023 Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India. Scandinavian journal of immunology 8 37114940
2021 Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report. BMC neurology 8 34301197
2021 Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8. Journal of clinical immunology 8 34657245
2018 IL-21 alleviates allergic asthma in DOCK8-knockout mice. Biochemical and biophysical research communications 8 29702092
2023 Metabolic fitness of IgA+ plasma cells in the gut requires DOCK8. Mucosal immunology 7 38159726
2022 CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome. Frontiers in genome editing 7 35373187
2021 DOCK8 deficiency diminishes thymic T-regulatory cell development but not thymic deletion. Clinical & translational immunology 7 33437483
2021 Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis. Frontiers in immunology 7 33936120
2021 Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency. Journal of clinical immunology 7 34080085
2021 Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion. Frontiers in pediatrics 7 34195158
2021 DOCK8-expressing T follicular helper cells newly generated beyond self-organized criticality cause systemic lupus erythematosus. iScience 7 34977502
2019 Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency. Immunological investigations 7 30689480
2016 DOCK8 deficiency in six Iranian patients. Clinical case reports 7 27398204
2014 A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome. Journal of the European Academy of Dermatology and Venereology : JEADV 7 24673638
2022 Deciphering the role of DOCK8 in tumorigenesis by regulating immunity and the application of nanotechnology in DOCK8 deficiency therapy. Frontiers in pharmacology 6 36386145

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