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Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Lookup NU author(s): Professor Andrew GenneryORCiD, Dr Venetia BigleyORCiD, Professor Mary Slatter



This is the authors' accepted manuscript of an article that has been published in its final definitive form by American Society of Hematology, 2022.

For re-use rights please refer to the publisher's terms and conditions.


Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy forinfants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lack of published HSCT outcome data outside small, single-center studies and perceived high risk of transplant related mortality have delayed the adoption of HSCT for IEI patients presenting or developing significant organ damage later in life.This large retrospective, multicenter HSCT outcome study reports on 329 IEI patients (age range 15-62.5 years at HSCT). Patients underwent first HSCT between 2000 and 2019. Primary endpoints were overall survival (OS) and event-free survival (EFS). We also evaluated the influence of IEI-subgroup and IEI-specific risk factors at HSCT, including infections, bronchiectasis, colitis, malignancy, inflammatory lung disease, splenectomy, hepatic dysfunction and systemic immunosuppression.At a median follow-up of 44.3 months, the estimated OS at 1 and 5 years post-HSCT for all patients was 78% and 71% and EFS was 65% and 62%, respectively, with low rates of severe acute (8%) or extensive chronic (7%) GVHD. On univariate analysis, OS and EFS were inferior in patients with primary antibody deficiency, bronchiectasis, prior splenectomy, hepatic comorbidity, and with higher HCT-CI scores. On multivariable analysis EFS was inferior in those with a higher number of IEI-associated complications.Neither age nor donor had a significant effect on OS or EFS.We have identified age-independent risk factors for adverse outcome, providing much needed evidence to identify which patients are most likely to benefit from HSCT.

Publication metadata

Author(s): Albert MH, Sirait T, Eikema DJ, Bakunina K, Wehr C, Suarez F, Fox ML, Mahlaoui N, Gennery AR, Lankester AJ, Beier R, Bernardo ME, Bigley V, Lindemans CA, OBurns S, Carpenter B, Dybko J, Gungor T, Hauck F, Lum SH, Balashov D, Meisel R, Moshous D, Schulz A, Speckmann C, Slatter MA, Strahm B, Uckan-Cetinkaya D, Meyts I, Vallee TC, Wynn R, Neven B, Morris EC, EBMT IEWP, ESID

Publication type: Article

Publication status: Published

Journal: Blood

Year: 2022

Pages: Epub ahead of print

Online publication date: 30/03/2022

Acceptance date: 17/03/2022

Date deposited: 17/03/2022

ISSN (print): 0006-4971

ISSN (electronic): 1528-0020

Publisher: American Society of Hematology


DOI: 10.1182/blood.2022015506

ePrints DOI: 10.57711/gjwt-8s13


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