Annual Inborn errors meeting report by Bobby Gaspar
Dear All
I’m just heading back from our annual Inborn errors meeting. This year the meeting was held in Belgrade and and my thanks go to Mario Abinun and Srdjan Pasic who hosted an extremely enjoyable meeting.
Once again the meeting was extremely well attended by nearly 70 delegates with physicians from all over Europe (including a number from the Balkans and eastern Europe) but also from USA, Brazil and Australia. We discussed a number of topics and the experience and expertise in the room combined with the relatively informal formal allowed for much discussion and debate.
Interestingly we started with where it all began; ‘How do we transplant SCID’. You would have thought that after all these years we really ought to know! But the issue now surrounding SCID transplants is, what do we do now that babies are being diagnosed at a very early age through better awareness or through previous family history or as in the States through newborn screening. Whereas we feel happy using certain conditioning regimes in older SCID children, is this really appropriate in a 2 week old baby? I think the answers really lie in firstly being able to define which molecular SCID forms (and with which type of donor) are permissible to transplant without chemotherapy and in those who are not permissive, what is the lowest level of conditioning that can be given? This will take some time to determine but as ever, we will come to quicker answers if we share protocols and have careful follow-up data.
A number of other specific immunodeficiencies were discussed including DOCK 8 deficiency, the Hyper IgE and CMC syndromes and RAG/Artemis defects. Each condition presents its own specific difficulties including who to transplant, when to transplant and how to transplant! I guess in the end that’s what makes this whole field so fascinating. We also had a session dedicated to CGD and we were lucky enough to have a talk from Steve Holland (NIH) who gave an excellent talk on the determinants of poor outcome both in terms of genotype and clinical events. We also discussed the excellent results of transplant for CGD using protocols combining targeted Busulfan/Fludarabine or Treosulphan/Fludarabine. These data make a powerful argument for considering the use of transplant in CGD when a well matched donor either related or unrelated is available.
We are still deciding where to go next year for the Autumn so I am open to suggestions. It would be good to take the meeting to countries where transplant for these difficult conditions is still in development so that by engaging local transplant physicians we can continue to improve outcome throughout Europe.
Best wishes
Bobby
