Centres that have fully registered eligible patients in the ESID-registry, have already been contacted directly and asked for approval to use the documented data.
Data has been extracted from ESID-R and provided to the study team. Analysis pending (01/2024).
Hyper-immunoglobulin E syndrome (HIES) due to dominant-negative mutations in signal transduction and activator of transcription 3 (STAT3-HIES), previously Job’s syndrome, is an inborn error of immunity characterised by eczema, recurrent staphylococcal and fungal skin and pulmonary infection and a number of extra-immune manifestations including minimal-trauma fractures, vascular ectasia, and lymphoma.
In conjunction with Great Ormond Street Hospital, London, UK and the National Institutes of Health, Bethesda, USA, we seek to gather the largest dataset of STAT3-HIES patients to date to better delineate clinical and immunological features and invite patients to answer self-reporting questionnaires on quality of life and psychological health.
We would like to expand this by inviting you to contribute detailed data on this cohort treated at your centres, including any data held on the ESID registry at present, through a REDCap questionnaire. We would also be interested in additional data on any patients who have undergone allogeneic stem cell transplantation for STAT3-HIES, in order to explore its role in this condition.
We believe this study will provide a detailed and updated description of this syndrome, its various manifestations including vascular disease, and how our standard treatment options impact these in order to inform future definitive work.
Please refer also to the information letter, provided by the study group:
