ArticleJournal of clinical immunology2017
DOCK8 Deficiency Presenting as an IPEX-Like Disorder.
Article in Journal of clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 47 citations in OpenAlex.
- Dock8 regulates Th2 cell differentiation through ANXA1.Fundamental research · 2026Article
- Targeting IL27RA Enhances Immunotherapy in Triple-Negative Breast Cancer by Modulating Tumor Cells and the Tumor Microenvironment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.Clinical immunology (Orlando, Fla.) · 2024Article
- Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.Life (Basel, Switzerland) · 2024Review
- DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.Journal of clinical immunology · 2024Article
- Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency.Frontiers in immunology · 2024Article
- Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome.Immunologic research · 2023Article
- Treg-associated monogenic autoimmune disorders and gut microbial dysbiosis.Pediatric research · 2022Review
- Inborn Errors of the Immune System Associated With Atopy.Frontiers in immunology · 2022Review
- Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.Cellular & molecular immunology · 2021Review
- Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.Scientific reports · 2021Article
- FOXP3 and Tip60 Structural Interactions Relevant to IPEX Development Lead to Potential Therapeutics to Increase FOXP3 Dependent Suppressor T Cell Functions.Frontiers in pediatrics · 2021Review
- Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.Frontiers in immunology · 2021Article
- North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease.Journal of pediatric gastroenterology and nutrition · 2020Article
- Immune Monitoring of Patients With Primary Immune Regulation Disorders Unravels Higher Frequencies of Follicular T Cells With Different Profiles That Associate With Alterations in B Cell Subsets.Frontiers in immunology · 2020Article
- Recent developments in understanding the mechanisms of food allergy.Current opinion in pediatrics · 2019Review
- Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases.Clinical reviews in allergy & immunology · 2019Review
- Regulatory T Cells: the Many Faces of Foxp3.Journal of clinical immunology · 2019Review
- A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.Journal of clinical immunology · 2019Article
- Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.Immunological reviews · 2019Review
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 4 countries.
Funding
Abstract
purposeThe dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-combined immunodeficiency whose clinical spectra include recurrent infections, autoimmunity, malignancies, elevated serum IgE, eczema, and food allergies. Here, we report on patients with loss of function DOCK8 mutations with profound immune dysregulation suggestive of an immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)-like disorder.
methodsImmunophenotyping of lymphocyte subpopulations and analysis of DOCK8 protein expression were evaluated by flow cytometry. T regulatory (T
resultsPatient 1 (P1) presented at 10 months of age with chronic severe diarrhea and active colitis in the absence of an infectious trigger, severe eczema with elevated serum IgE, and autoimmune hemolytic anemia, suggestive of an IPEX-related disorder. Whole-exome sequencing revealed a homozygous nonsense mutation in DOCK8 at the DOCK-homology region (DHR)-1 (c.1498C>T; p. R500X). Patient P2, a cousin of P1 who carries the same DOCK8 nonsense mutation, presented with eczema and recurrent ear infections in early infancy, and she developed persistent diarrhea by 3 years of age. Patient P3 presented with lymphoproliferation, severe eczema with allergic dysregulation, and chronic diarrhea with colitis. She harbored a homozygous loss of function DOCK8 mutation (c.2402 -1G→A). T
conclusionDOCK8 deficiency may present severe immune dysregulation with features that may overlap with those of IPEX and other IPEX-like disorders.
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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.