- All of the following are required:
- Adult patients only
- Onset of patients’ medical problems is in early childhood (often < 1 year old)
- Severe persistent eczema (severe means requiring treatment over and above safe use of potent topical steroids, e.g. topical calcineurin inhibitors, UV light treatment or systemic immunosuppression: azathioprine, cyclosporine A, methotrexate, mycophenolate). Where topical calcineurin inhibitors are used as first line treatment and achieve good symptom control patients should only be included if serum IgE >10000.
- Recurrent or chronic aureus skin infections, but this criterion may be absent if the patient is receiving systemic immunosuppressive treatment.
- Asthma, but the severity can vary from mild to severe
- High IgE levels >5000
- Sensitised to a wide variety of aero-allergens and food allergens as measured by ImmunoCAP tests.
- Those with systemic infections (unlike patients with classical hyper IgE syndrome)
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
These requirements will be kept under continual review during the main programme and may be subject to change« Back to Disease List