ArticleJournal of clinical immunology2012
Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
Article in Journal of clinical immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 101 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.Clinical and experimental medicine · 2023Pooled it
- The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.The Journal of experimental medicine · 2018Trial
- Pediatric DOCK8 Deficiency Beyond Infections and Atopy: An Immunoactinopathy with Immune Dysregulation and Multisystem Involvement.Children (Basel, Switzerland) · 2026Article
- DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report.JPGN reports · 2026Article
- Monogenic inflammatory bowel disease: An unfolding enigma.World journal of clinical pediatrics · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.Viruses · 2024Article
- Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.Journal of clinical immunology · 2023Article
- Article
- DOCK8 inhibits the immune function of neutrophils in sepsis by regulating aerobic glycolysis.Immunity, inflammation and disease · 2023Article
- New Insights and Advances in Pathogenesis and Treatment of Very Early Onset Inflammatory Bowel Disease.Frontiers in pediatrics · 2022Review
- Human genetic and immunological dissection of papillomavirus-driven diseases: new insights into their pathogenesis.Current opinion in virology · 2021Review
- The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay.Familial cancer · 2021Article
- RHO GTPases: from new partners to complex immune syndromes.Nature reviews. Immunology · 2021Review
- Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report.BMC neurology · 2021Article
- Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.Frontiers in allergy · 2021Article
- Article
- Recognition ofMicroorganisms · 2020Review
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and recurrent respiratory or gastrointestinal tract infections. However, four patients presented with other features. Patient 1-1 featured sclerosing cholangitis and colitis; patient 2-1, granulomatous soft tissue lesion and central nervous system involvement, with primary central nervous system lymphoma found on follow-up; patient 3-1, a fatal metastatic leiomyosarcoma; and patient 4-2 showed no other symptoms initially besides atopic dermatitis. Similar to other previously reported Turkish patients, but in contrast to patients of non-Turkish ethnicity, the patients' lymphopenia was primarily restricted to CD4(+) T cells. Patients had homozygous mutations in DOCK8 that altered splicing, introduced premature terminations, destabilized protein, or involved large deletions within the gene. Genotyping of remaining family members showed that DOCK8 deficiency is a fully penetrant, autosomal recessive disease. In our patients, bone marrow transplantation resulted in rapid improvement followed by disappearance of viral skin lesions, including lesions resembling epidermodysplasia verruciformis, atopic dermatitis, and recurrent infections. Particularly for patients who feature unusual clinical manifestations, immunological testing, in conjunction with genetic testing, can prove invaluable in diagnosing DOCK8 deficiency and providing potentially curative treatment.
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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.