Inborn Errors Working Party (IEWP)

IEWP Newsletter - December 2015

by Andrew Gennery

The Inborn Errors Working Party has had another busy year.


The working party held a joint paediatric day with the Paediatric Diseases Working Party at the 41st EBMT Annual Meeting in Istanbul, Turkey in March 2015. The first session included invited speakers:

  • Marina Cavazzana – Gene Therapy Clinical Trials: Recent Progress
  • Beatriz Morillo-Gutierrez – Treosulfan-based conditioning for Chronic Granulomatous Disease – The Eurropean Experience on behalf of IEWP
  • Arjan Lankester - Outcome after stem cell transplantation for severe combined immunodeficiency in Europe: Current results and future perspectives on behalf of IEWP
  • Bénédicte Neven - Update of SCETIDE data for PID to 2012

The second session included selected oral abstracts.

In April we held our first one day workshop on ‘How to transplant a patient with Primary Immunodeficiency’ in Leuven, Belgium – with over 30 delegates attending.

September saw a one day workshop in London discussing implementation of Newborn Screening for SCID across Europe, and in particular, subsequent data collection and follow up.

In October, we held the IEWP Autumn meeting in Seville, Spain. Over 130 were registered, but despite the size of the meeting we managed to retain the deep conversations and fiercely held opinions. The meeting was preceeded by a half day version of the Leuven workshop - ‘How to transplant a patient with Primary Immunodeficiency’.

Meeting sessions included:

  • Metabolic Diseases
  • Pharmacokinetics
  • Haemoglobinopathies
  • HSCT for Emerging Indications
  • Gene Therapy
  • Primary immunodeficiencies
  • Osteopetrosis
  • Thymic disorders

Update on IEWP studies

We were fortunate that Professor Luigi Notarangelo from Harvard could join us and deliver the keynote lecture -  “It is RAG time: from repertoire abnormalities and anti-cytokine antibodies to NK cells”. In an IEWP first, Georg Hollander was unable to join us for the thymic session, but delivered his lecture by skype from Japan.

We have published a number of studies this year, listed below. The scientific committee meet at the EBMT and Autumn meetings, and also by telephone, to discuss our current proposed prospective study comparing outcomes of targeted busulphan vs treosulfan in transplants for Chronic Granulomatous Disease or Wiskott-Aldrich syndrome – details to follow.

The scientific committee are:
Andy Gennery (Chair IEWP) , Alessandro Aiuti, Michael Albert, Stephan Ehl, Bobby Gaspar, Tayfun Gungor, Jaap Jan Boelens, Arjan Lankester, Nizar Mahlaoui, Benedicte Neven, Mary Slatter.

Publications 2015:

  • Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S, Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG, Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, Drabko K, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, Bernatowska E; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. J Clin Immunol 2015;35:538-549
  • Fioredda F, Iacobelli S, van Biezen A, Gaspar B, Ancliff P, Donadieu J, Aljurf M, Peters C, Calvillo M, Matthes-Martin S, Morreale G, van 't Veer-Tazelaar N, de Wreede L, Al Seraihy A, Yesilipek A, Fisher A, Bierings M, Ozturk G, Smith O, Veys P, Ljungman P, Peffault Delatour R, de Toledo Codina JS, Or R, Ganser A, Afanasyev B, Wynn R, Kalwak K, Marsh J, Dufour C. Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. Blood 2015;126:1885-1892
  • Slatter MA, Boztug H, Pötschger U, Sykora K-W, Lankester A, Yaniv I, Sedlacek P, Glogova E, Veys P, Gennery AR, Peters C 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 (in press)
  • Bode SFN, Ammann S, Al-Herz W, Bataneant M, Bryceson YT, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Jordan MB, Matthes-Martin S, Meesters R, Meyts I, van Montfrans JM, Moshous D, Pachlopnik-Schmid J, Pai S-Y, Palacin PS, Schuermann U, Schuster V, Seidel M, Speckmann C, Stary J, Stepensky P, Karl-Walter Sykora K-W, Tesi B, Vraetz T, Waruiru C, Lehmberg K, Ehl S, for the Inborn Errors Working Party of the EBMT. Infections in primary immunodeficiencies fulfilling criteria for hemophagocytic lymphohistiocytosis: implications for differential diagnosis. Haematologica 2015;100:978-988
  • Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal O, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai S-Y, Geha R, Notheis G, Schwarze C-P, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Michael H Albert MH, On behalf of the inborn errors working party of EBMT. DOCK8deficiency: clinical and immunological phenotype and treatment options. J Clin Immunol 2015;35:189-198
  • Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol. 2015;135:988-997

A number of publications are on-going. Meetings next year include EBMT in Valencia in April, ESID in Barecelona in September and our Autumn meeting in November in Ghent.

Andy Gennery