ReviewClinical immunology (Orlando, Fla.)2017
DOCK8 deficiency: Insights into pathophysiology, clinical features and management.
Review in Clinical immunology (Orlando, Fla.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
97 citing papers in PubMed, 3 syntheses or guidelines pooled it, 170 citations in OpenAlex.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.Human mutation · 2022Pooled it
- Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.Nature communications · 2018Pooled it
- Autoimmune Hemolytic Anemia in a Child with DOCK8-Deficient Hyper-IgE Syndrome.Indian journal of pediatrics · 2026Article
- Emerging Paediatric Uses of Dupilumab Beyond Approvals.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2026Review
- Pediatric DOCK8 Deficiency Beyond Infections and Atopy: An Immunoactinopathy with Immune Dysregulation and Multisystem Involvement.Children (Basel, Switzerland) · 2026Article
- Connecting Skin and Gut in Dermatitis Herpetiformis: Insights from Gluten Challenge Transcriptomics.Acta dermato-venereologica · 2026Article
- When to consider an inborn error of immunity: clues for physicians.Internal medicine journal · 2026Review
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- LRBA regulates actin cytoskeleton dynamics through NMIIA during B cell immune responses.EMBO reports · 2026Article
- Comprehensive Profiling of T- and B-Cell Receptor Repertoires Demonstrates Impaired Developmental and Activation of Adaptive Immunity in DOCK8 Deficiency.Journal of clinical immunology · 2026Article
- Functional analysis of a splicing variant of the DOCK8 gene in a patient with breast cancer (Buryat ethnicity).Asian Pacific journal of cancer prevention : APJCP · 2026Article
- AllergoOncology in Review: Harnessing Allergy in the Field of Oncology to Improve Patient Outcomes.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2026Review
- Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders.Medicina (Kaunas, Lithuania) · 2026Review
- Decreased IL-17-producing TThe journal of allergy and clinical immunology. Global · 2026Article
- DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report.JPGN reports · 2026Article
- Recent Insights on Dental Caries Microbiota in Pediatric Patients with Inborn Errors of Immunity.Advances in experimental medicine and biology · 2026Review
- A hypothesis and evidence map for neuroimmune regulation of DOCK-family cytoskeletal programs in solid tumors.Frontiers in immunology · 2026Review
- Progressive multifocal leukoencephalopathy in a young adult with DOCK8 deficiency: a case of JC virus reactivation in primary immunodeficiency.Journal of neurovirology · 2025Article
- Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI).Journal of human immunity · 2025Review
37 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 3 countries.
Funding
Abstract
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. It is caused by loss of function mutations in DOCK8, encoding a guanine nucleotide exchange factor highly expressed in lymphocytes that regulates the actin cytoskeleton. Additional roles of DOCK8 have also emerged, including regulating MyD88-dependent Toll-like receptor signaling and the activation of the transcription factor STAT3. DOCK8 deficiency impairs immune cell migration, function and survival, and it impacts both innate and adaptive immune responses. Clinically, DOCK8 deficiency is characterized by allergic inflammation as well as susceptibility towards infections, autoimmunity and malignancy. This review details the pathophysiology, clinical features and management of DOCK8 deficiency. It also surveys the recently discovered combined immunodeficiency due to DOCK2 deficiency, highlighting in the process the emerging spectrum of PIDs resulting from DOCK protein family abnormalities.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.