Registry Working Party

Study on Hyper-immunoglobulin E syndrome (HIES) due to dominant-negative STAT3 mutations


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 and provided to the study team.


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: