Inborn Errors Working Party (IEWP)

IEWP - Newsletter December 2016

by Andy Gennery

ESID IEWP Report – November 2016

I write as the end of the year approaches to update you on the year to date and inform you of future events.

The annual Autumn meeting of IEWP was hosted by Victoria Bordon in Ghent, Belgium at the Het Pand old university buildings. Around 100 people attended, including participants from Australia, Malaysia, Hong Kong, Brazil, Canada and the USA. We covered topics ranging from a very lively, but interesting session on pharmacokinetics, a philosophical, yet practical discussion of the definition of Severe Combined Immunodeficiency in the era of newborn screening and modern genomics, a session on Chronic granulomatous disease and Wiskott Aldrich syndrome and a session on outcomes of HSCT for emerging diseases – the same session last year has resulted in two publications with a further two manuscripts submitted. The session on severe combined immunodeficiency was introduced by an excellent presentation on T cell exhaustion following HSCT – other presentations included longterm outcomes and gene therapy. Steve Holland from NIH, Bethesda gave the Keynote Lecture on Chronic Granulomatous Disease, with interesting insights into x-linked carriers, and potential implications for partial donor chimeras, or recipients of gene therapy.

The debate about the use of T cell depleted donors versus mis-matched unrelated donors, postponed from last year, gave rise to a lively discussion generating ideas for the development of new guidelines. The meeting concluded with a review of progress on current studies and some new proposals. The informal atmosphere of an IEWP meeting was maintained, with close friendships, and shared goals of developing new treatments to improve outcomes for our patients. The beautiful city of Ghent entertained us each evening including a memorable, though wet, boat trip, Belgian beer and chocolate.

Future meetings next year are:

  1. IEWP sessions during EBMT 43rd meeting of EBMT in Marseilles – the paediatric day with IEWP is on 28th March 2017
  2. IEWP Autumn meeting, Newcastle upon Tyne, 3-5 November 2017

IEWP Publications 2016

  • Yeates L, Slatter MA, Bonanomi S, et al. Use of Defibrotide to treat Transplant-Associated Thrombotic Microangiopathy – a Retrospective Study of the Paediatric Diseases and Inborn Errors Working Parties of the European Society of Blood and Marrow Transplantation. Bone Marrow Transplant (in press)
    • Nademi Z, Slatter MA, Dvorak CC , et al, on behalf of the Inborn Error Working Party of EBMT and ESID. (2016) Haematopoietic Stem Cell Transplant in Patients with Activated PI3K Delta Syndrome. J Allergy Clin Immunol (in press)
    • Chiesa R, Ruggeri A, Paviglianiti A, Zecca M,et al, on behalf of Eurocord, IEWP and CTIWP of EBMT. (2016) Outcomes after unrelated umbilical cord blood transplantation for children with osteopetrosis. Biol Blood Marrow Transplant 2016;22:1997-2002.
    • Speckmann C, Doerken S, Aiuti A, et al, on behalf of the PCID-study of the Inborn Errors Working Party of the EBMT. (2016) A prospective study on the natural history of patients with profound combined immunodeficiency (P-CID): a “first fifty” analysis. J Allergy Clin Immunol (in press)
    • Morillo-Gutierrez B, Beier R, Rao K, et al.. (2016) Treosulfan based conditioning for allogeneic haematopoietic stem cell transplantation in children with Chronic Granulomatous Disease. Multicentre experience on behalf of the EBMT Inborn Errors Working Party. Blood 128 440-448

Submitted or in revision:

Leiding JW, Okada S, Abinun M, et al, on behalf of IEWP of EBMT and PIDTC. Hematopoietic stem cell transplantation in patients with Gain of Function STAT1 Mutation. J Allergy Clin Immunol (in revision)

Slack J, Albert MH, Balashov D, et al on behalf of the Inborn Errors Working Party of the  European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies, Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE), the Center for International Blood and Marrow Transplant Research, and the Primary Immunodeficiency Treatment Consortium. Outcome of Haematopoietic Stem Cell Transplantation for DNA-Double Strand Breakage Repair Disorders: An EBMT/ESID IEWP, SCETIDE and CIBMTR/PIDTC Survey. (submitted)

Shekhovtsova Z, Bonfim C, Ruggeri A, et al, on behalf of Eurocord, Cord blood committee of CTIWP and IEWP of EBMT. A Risk Factor Analysis of Outcomes After Unrelated Cord Blood Transplantation for Children with Wiskott-Aldrich Syndrome. (submitted)

Hoenig M, Lagresle-Peyrou C, Pannicke U, et al, on behalf of the EBMT Inborn Errors Working Party. Reticular Dysgenesis: International Survey on Clinical Presentation, Transplantation and Outcome. (submitted)

Finally, Arjan Lankester was elected as chair of ESID IEWP, and I wish him future success.

I wish you a joyful festive season and Happy New Year.

Andy Gennery

Chair - IEWP