#EBMT2015 IEWP – EBMT 2015 Business Meeting Monday rd March 2015

2 Agenda IEWP sessions at EBMT 2015 Leuven Workshop – “How to transplant a patient with PID” April 24 th IEWP Autumn meeting – Seville October 16 th -18 th Metabolic diseases – update Gene Therapy – update Recent publications Update on current studies New study proposals News from EBMT/ESID AOB

3 Paediatrics WP – C ̧ amlica Hall Marina Cavazzano – Gene therapy clinical trials: Recent progress Inborn Errors WP C ̧ amlica Hall Beatriz Morillo-Gutierrez – Treosulfan-based conditioning for CGD Giovanna Lucchini – SCT in AML: Does the conditioning regimen matter? Christina Peters – Myeoablative chemoconditioning for allogeneic SCT in children with ALL Arjan Lankester – HSCT for SCID below age two: an update by the European Registry (SCETIDE) Jaap Jan Boelens – Outcome of Duke-Eurocord study on outcomes of CBT for leukodystrophy Bénédicte Neven - HSCT For Patients With PID In Europe: An Update By The European Registry (SCETIDE) IEWP Sessions – Istanbul 2015 Tuesday 24th March 2015

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6 Metabolic Diseases sub-committee - Update

7 Gene Therapy Sub-committee - Update

8 Gungor T, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014;383: IF Bontant T, et al. Survey of CMV management in pediatric allogeneic HSCT programs, on behalf of the inborn errors, infectious diseases and pediatric diseases working parties of EBMT. Bone Marrow Transplant. 2014;49:276-9 IF Publications

9 Angelucci E, et al. Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel. Haematologica. 2014;99: IF Fuchs S, et al. Patients with T ⁺ /low NK ⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency. Eur J Immunol. 2014;44: IF Publications

10 Wehr C, et al. Multicenter experience in hematopoietic stem cell transplantation in 25 patients with common variable immunodeficiency. J Allergy Clin Immunol 2015 (in press) IF Aydin SE, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options. J Clin Immunol 2015;35: IF Publications

11 DNA repair defects - outcome of HSCT: an EBMT IEWP/ CIBMTR study – manuscript draft almost ready to be circulated HSCT for CD40 ligand deficiency: results from an EBMT IEWP study – study closed, presented at ESID, to be presented at EBMT, manuscript in preparation** The PCID Study: Update And Baseline Features Of The First Fifty Patients - ESID presentation, manuscript in process Nijmegen Breakage Syndrome: clinical and immunological features, long-term outcome and treatment options. Submitted to J Clin Immunol – revision in progress Cord Blood Tx in Leukodystrophies (IEWP/Eurocord) – – Oral presentation at EBMT Rituximab post HSCT Defibrotide treatment for TMA (IEWP/PDWP) – data analysis commencing Reticular Dysgenesis: International Survey on Clinical Presentation, Transplantation and Outcome – Manuscript prepared Update on current studies

12 –Retrospective outcome of CGD (Tx or no) correlated with residual NADPH function (joint IEWP/PIDTC) - commencing –Analyse the next data set from SCETIDE (SCID/PID) – Oral presentations at EBMT, Manuscript commencing –Outcome of HSCT with Treosulfan conditioning for CGD - Oral presentations at EBMT, Manuscript commencing –Longterm (>20yr) outcome of HSCT for SCID (IEWP/PIDTC) – ESID fellow commencing April 2015 –HSCT for VPS45 deficiency - commencing –IPEX – Outcome +/- HSCT (with PIDTC) – commencing Update on current studies

13 New Study Proposals –HSCT for DOCK8 - commencing

14 New Study Proposals

15 Leiden Statistical unit – Arjan Lankester update Ethical approval Ideas for a prospective study……… –CGD Treo or Bu (need Treop PK first) New Studies