Inborn Errors Working Party (IEWP)

IEWP Newsletter - March 2016

by Andrew Gennery

In 2015, the IEWP held 4 major meetings including the EBMT Spring meeting in Istanbul, listed below. Our first one day workshop – ‘How to transplant a patient with Primary Immunodeficiency’ was extremely successful, with requests to repeat it, and so we began our annual Autumn meeting with a similar workshop condensed into the preceeding morning. Our Autumn meeting had our highest number of attendees ever (130), including colleagues from North and South America, Australia and Malaysia – notable highlights were the keynote lecture, “It is RAG time: from repertoire abnormalities and anti-cytokine antibodies to NK cells”, delivered by Professor Notarangelo from Harvard University; Professor Hollander from Oxford and Basel Univeristies was unable to join us for the Thymic Disorders session, but delivered his lecture by skype from Japan. Our small Newborn Screening for SCID Working Group met in September and the group is producing European-wide guidelines for implementation of Newborn Screening for SCID, and subsequent management guidelines and data collection. We have updated consensus guidelines for diagnosis, therapy and follow-up of Osteopetrosis, available as a PDF on the ESID website (!-EBMT-ESID-GUIDELINES-FOR-HAEMATOPOIETIC-STEM-CELL-TRANSPLANTATION-FOR-PI/Updated-Osteopetrosis-Consensus-Guidelines). A number of studies on outcomes of transplant in rare diseases are in progress. Additionally, we have published six major studies over the year. Increasingly we are collaborating with our sister organisation in North America (the Primary Immune Deficiency Treatment Consortium), giving greater power to our studies.

Publications 2015

1. Wolska-Kuśnierz B, Gregorek H, Chrzanowska K et al; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. (2015) Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. J Clin Immunol 35 538-549

2. Fioredda F, Iacobelli S, van Biezen A, et al (2015) Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. Blood 126:1885-1892

3. Slatter MA, Boztug H, Pötschger U, et al on behalf of the EBMT Inborn Errors and Paediatric Diseases Working parties. (2015) Treosulfan-based conditioning regimens for allogeneic Haematopoeitic stem cell transplantation in children with non-malignant diseases. Bone Marrow Transplant 50 1536-1541

4. Bode SFN, Ammann S, Al-Herz W, et al, for the Inborn Errors Working Party of the EBMT. (2015) Infections in primary immunodeficiencies fulfilling criteria for hemophagocytic lymphohistiocytosis: implications for differential diagnosis. Haematologica 100 978-988

5. Aydin SE, Kilic SS, Aytekin C, et al, On behalf of the inborn errors working party of EBMT. (2015) DOCK8deficiency: clinical and immunological phenotype and treatment options. J Clin Immunol 35 189-198

6. Wehr C, Gennery AR, Lindemans C, et al; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency. (2015) Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol. 135 988-997

Major educational courses in 2015

  1. How to transplant a patient with Primary Immunodeficiency’ 24/4/2015 Leuven, Belgium – 40 delegates.
  2. ‘How to transplant a patient with Primary Immunodeficiency’ (half day) 16/10/2015 Seville, Spain – 80 delegates.
  3. IEWP Autumn meeting 16-18/10/2015, Seville, Spain – 130 delegates

2.     Newborn Screening for SCID Working Group 30/09/2015 London, UK – 15 delegates

Planned educational courses in 2016

  1. IEWP session during 42nd EBMT meeting, Valencia, 3-6 April
  2. IEWP educational session during EBMT PD/IEWP Meeting, Rhodes 26-28 May
  3. IEWP session during ESID 17th Biennial meeting, Barcelona 21-24 September
  4. IEWP Autumn meeting, Ghent, 4-6 November
  5. IEWP 2nd Thymic workshop, Leiden, November (details to follow)