ArticleJournal of clinical immunology2013
Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.Clinical and experimental medicine · 2023Pooled it
- Hematopoietic stem cell transplantation for DOCK8 deficiency: durable immune reconstitution and long-term survival in 47 patients.Frontiers in immunology · 2026Article
- Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters.BMC immunology · 2025Article
- Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity.Journal of clinical medicine · 2023Review
- Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases.Frontiers in neurology · 2023Review
- Eczema herpeticumWorld journal of clinical cases · 2022Article
- DOCK4 as a Potential Biomarker Associated with Immune Infiltration in Stomach Adenocarcinoma: A Database Analysis.International journal of general medicine · 2022Article
- CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome.Frontiers in genome editing · 2022Article
- TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.Clinical and experimental immunology · 2020Article
- Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.Metabolites · 2019Article
- Challenges and Clinical Implications of the Diagnosis of Cytomegalovirus Lung Infection in Children.Current infectious disease reports · 2019Review
- Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.Immunological reviews · 2019Review
- Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity.Scientific reports · 2018Article
- High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.Frontiers in immunology · 2018Article
- DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs.JCI insight · 2017Article
- DOCK8 deficiency: Insights into pathophysiology, clinical features and management.Clinical immunology (Orlando, Fla.) · 2017Review
- The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.Immunologic research · 2017Article
- Hyper-IgE Syndromes and the Lung.Clinics in chest medicine · 2016Review
- Recent Advances in DOCK8 Immunodeficiency Syndrome.Journal of clinical immunology · 2016Review
- CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report.BMC neurology · 2016Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAutosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susceptibility to viral infections, atopic eczema, high serum IgE and defective T cell activation. The genetic etiologies are diverse. Null mutations in DOCK8 and TYK2 are responsible for many cases. This study aims to provide a detailed clinical and immunological characterization of the disease and explore the underlying genetic defects among a large series of patients followed by a single center. The available data might improve our understanding of the disease pathogenesis and prognosis.
methodsClinical data of twenty-five patients diagnosed with AR-HIES were collected. Seventeen patients screened for STAT3, TYK2 and DOCK8 mutations.
resultsSinopulmonary infections, dermatitis, hepatic disorders, cutaneous and systemic bacterial, fungal and viral infections were the most common clinical features. The rate of hepatic disorders and systemic infections were high. Twelve patients died with a median age of 10 years. CMV infection was the only statistically significant predicting factor for poor prognosis (early death). Three novel DOCK8 mutations and two large deletions were found in thirteen patients. No mutations found in STAT3 or TYK2 genes.
conclusionAutosomal recessive hyper-IgE syndrome is a combined immunodeficiency disease characterized by high morbidity and mortality rate. The different genetic background and environmental factors may explain the more severe phenotypes seen in our series. DOCK8 defect is the most common identified genetic cause. Patients with no identified genetic etiology are likely to carry mutations in the regulatory elements of genes tested or in novel genes that are yet to be discovered.
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