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2013/2014 Medium-term fellowship report

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By Francesca Ferrua

The ESID Medium Term Fellowship has afforded a great opportunity for me, because of which I spent three months at the “Great North Children’s Hospital” in Newcastle upon Tyne, UK.

During my staying there, I deepened my knowledge and widened my experience in the field of Primary Immunodeficiencies, and in particular, in their treatment by haematopoietic stem cell transplantation (HSCT). I had the privilege to daily attend the Paediatric Bone Marrow Transplant (BMT) Unit, where I had the possibility to enrich my expertise in the management of immunocompromised children undergoing transplant, mainly focusing on the therapeutic approach of transplant related-complications, such as infections and graft-versus-host disease (GVHD) and learning both standard treatments and cutting edge techniques under investigation, such as extracorporeal photopheresis for the treatment of GVHD.

Moreover, I was able to attend the outpatient clinics, where I could learn experience in the diagnostic work up of a wide range of immune system defects, from simple to more complex diseases, their differential diagnosis, and the relevant investigations to unravel them.

Of note, I had the privilege to take part in the weekly BMT Unit Ward Rounds that represented important learning opportunities through the collegial discussion of clinical cases. Moreover, I could participate in research meetings and the discussions about the definition of the transplant pathway of different patients (donor selection, choice of the most appropriate conditioning regimen).

In the context of the local Junior Doctors Training Program, I could also take part in their dedicated lessons on hot topics in the field of paediatric immunology and in the Journal clubs organized by them. I had also the opportunity to present some clinical cases and to prepare a journal club.

Finally, under the supervision of my local tutor, Dr. Andrew R. Gennery, I ran a European (IEWP/ESID) research project aimed at updating current knowledge about the outcome of HSCT in CD40 ligand (CD40L) deficiency. For this purpose, we conducted a survey among European Transplant Centres, on behalf of SCETIDE and EBMT IEWP. We harvested as much data as possible from the existing databases (SCETIDE/EBMT) and then approached the individual referring centres for additional information with a comprehensive questionnaire. We compared new data with the old series in order to evaluate survival, risk factors, differences between donor stem cell sources and conditioning regimens, engraftment and complications (post-transplant infections, GVHD) and to individuate specific risk factors for patients and for the different strategies, to determine the optimal timing for treatment and the best type of HSCT (conditioning regimen/stem cell source) in the different settings.

The preliminary results of this study have been summarized in an abstract that has been submitted to the next ESID Meeting to be held in Prague at the end of October 2014.

In conclusion, I feel really blessed for having had the great opportunity to have this learning experience, that has given me the possibility of significant personal and professional growth, and I would like to thank ESID very much for making it possible by a Medium term grant! My passion for PID and paediatric immunology is now even greater than before!

Moreover, I would like to thank the amazing team I met in Newcastle that welcomed me and taught me so many things! I would like to thank in particular Dr. Andy Gennery for having been my mentor during this period: thank you for all you taught to me and all your precious suggestions and advice!Medi

Yours sincerely,

Francesca Ferrua