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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Kienzler, Anne-Kathrin Van Schouwenburg, Pauline A. Taylor, John Marwah, Ishita Sharma, Richa U. Noakes, Charlotte Thomson, Kate Sadler, Ross Segal, Shelley Ferry, Berne Taylor, Jenny C. Blair, Edward Chapel, Helen Patel, Smita Y. |
| Description | Author Affiliation: Kienzler AK ( Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK); van Schouwenburg PA ( Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK); Taylor J ( Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.); Marwah I ( Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK); Sharma RU ( Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK); Noakes C ( Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.); Thomson K ( Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.); Sadler R ( Department of Clinical Laboratory Immunology, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.); Segal S ( Department of Paediatrics, Children's Hospital, Oxford University NHS Hospitals Trust, Oxford, UK.); Ferry B ( Department of Clinical Laboratory Immunology, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.); Taylor JC ( Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, Oxford, UK.); Blair E ( Department of Clinical Genetics, Churchill Hospital, Oxford University NHS Hospitals Trust, Oxford, UK.); Chapel H ( Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK); Patel SY ( Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK) |
| Abstract | Loss-of-function mutations in DOCK8 are linked to hyper-IgE syndrome. Patients typically present with recurrent sinopulmonary infections, severe cutaneous viral infections, food allergies and elevated serum IgE. Although patients may present with a spectrum of disease-related symptoms, molecular mechanisms explaining phenotypic variability in patients are poorly defined. Here we characterized a novel compound heterozygous mutation in DOCK8 in a patient diagnosed with primary combined immunodeficiency which was not typical of classical DOCK8 deficiency. In contrast to previously identified mutations in DOCK8 which result in complete loss of function, the newly identified single nucleotide insertion results in expression of a truncated DOCK8 protein. Functional evaluation of the truncated DOCK8 protein revealed its hypomorphic function. In addition we found somatic reversion of DOCK8 predominantly in T cells. The combination of somatic reversion and hypomorphic DOCK8 function explains the milder and atypical phenotype of the patient and further broadens the spectrum of DOCK8-associated disease. |
| File Format | HTM / HTML |
| ISSN | 15216616 |
| e-ISSN | 15217035 |
| DOI | 10.1016/j.clim.2015.12.003 |
| Journal | Clinical Immunology |
| Volume Number | 163 |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2016-02-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Discipline Immunology Guanine Nucleotide Exchange Factors Genetics Immunoglobulin E Immunology Immunoglobulin M Immunologic Deficiency Syndromes Bronchiectasis Etiology Heterozygote Immunoglobulin G Complications Mutation Recurrence Respiratory Tract Infections Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Case study Article |
| Subject | Immunology and Allergy Immunology |
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