National Functional Immunogenomics

Jun 07, 2021

Update from the Immune Disorders GECIP and proposed regular meeting structure

(1) Work continues on the large number of patients recruited to the 100,000 Genomes Project with suspected inborn errors of immunity. Potential diagnoses have now been proposed in more than a quarter of probands although functional validation would often be required to confirm pathogenicity.  The need for functional validation is not confined to the 100,000 Genomes Project but applies in many patients sequenced through a variety of routes.

To facilitate such crucial diagnostic work we propose to institute a monthly functional immunogenomics MDT meeting: 

  • If you have received genetic results of uncertain significance in your patients, whatever their source, you are welcome to bring them for peer discussion and expert advice. 
  • By connecting clinical and research teams, we hope to facilitate downstream work that can help clarify whether or not variants are causative (and hence clinically actionable). 
  • We propose to hold these meetings monthly on the 4th Thursday of the month from 1-2pm. 
  • To receive joining details, please register here
  • We request that case presentations are submitted without names or dates of birth, using a standard template (attached, based on the R15 request form).  Please send these to to schedule a case for discussion.

(2) An increasing volume of research on inborn errors of immunity is flowing from the 100,000 Genomes Project. For example we contributed to the following paper describing autosomal dominant SYK gain-of-function as a cause of immune dysregulation with colitis and lymphoproliferation (

·        We thought it would be useful to provide a forum in which updates, data and ideas can be shared collaboratively so invite you to join a quarterly GECIP IEI research forum on the dates below. 

·         GECIP IEI research forum dates:

o    Monday, 19th July at 2:00 pm - 4:00 pm

o    Thursday, 14th October at 1:00 pm - 3:00 pm

o    Tuesday, 11th January at 11:00 am - 1:00 pm

·         If you would like to attend and/or present on any related topic then please come forward and register here.

(3) The R15 panel is now up and running in Manchester and London and returning diagnoses on our patients.  Rumour has it that WGS for IEI within the NHS is just around the corner.  This means that genomic medicine is here to stay and emphasises the importance of developing the above pathways so that we can do the best for our patients.

Download document