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Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study.

Journal article
Authors Francesca Ferrua
Stefania Galimberti
Virginie Courteille
Mary Anne Slatter
Claire Booth
Despina Moshous
Benedicte Neven
Stephane Blanche
Alexandra Laberko
Anna Shcherbina
Dmitry Balashov
Elena Soncini
Fulvio Porta
Hamoud Al-Mousa
Bandar Al-Saud
Hasan Al-Dhekri
Rand Arnaout
Renata Formankova
Yves Bertrand
Andrzej Lange
Joanne Smart
Beata Wolska-Kusnierz
Victor M Aquino
Christopher C Dvorak
Anders Fasth
Fanny Fouyssac
Carsten Heilmann
Manfred Hoenig
Catharina Schuetz
Jadranka Kelečić
Robbert G M Bredius
Arjan C Lankester
Caroline A Lindemans
Felipe Suarez
Kathleen E Sullivan
Michael H Albert
Krzysztof Kałwak
Vincent Barlogis
Monica Bhatia
Victoria Bordon
Wojciech Czogala
Laura Alonso
Figen Dogu
Jolanta Gozdzik
Aydan Ikinciogullari
Gergely Kriván
Per Ljungman
Isabelle Meyts
Peter Mustillo
Angela R Smith
Carsten Speckmann
Mikael Sundin
Steven John Keogh
Peter John Shaw
Jaap Jan Boelens
Ansgar S Schulz
Petr Sedlacek
Paul Veys
Nizar Mahlaoui
Ales Janda
E Graham Davies
Alain Fischer
Morton J Cowan
Andrew Richard Gennery
Published in The Journal of allergy and clinical immunology
Volume 143
Issue 6
Pages 2238-2253
ISSN 1097-6825
Publication year 2019
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 2238-2253
Language en
Subject categories Pediatrics, Immunology in the medical area


CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT).We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics.We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables relevance with respect to survival and cure.Overall survival (OS), event-free survival (EFS) and disease-free survival (DFS) were 78.2%, 58.1% and 72.3% 5 years post-HSCT. Results were better in transplants performed ≥2000 and in children <10 years old at HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT ≤2 years from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC) and bone marrow-derived stem cells. Most rejections occurred after reduced intensity or non-myeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was ≥50% donor in 85.2%.HSCT is curative in CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS and DFS. Prospective studies are required to compare risks of HSCT with those of life-long supportive therapy.

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