Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort
Arjan C. Lankester, Bénédicte Neven, Nizar Mahlaoui, Erik G. J. von Asmuth, Virginie Courteille, Mikael Alligon, Michael H. Albert, Isabelle Serra, Peter Bader, Dmitry Balashov, Rita Beier, Yves Bertrand, Stéphane Blanche, Victoria Bordon, Robbert G. M. Bredius, Andrew J. Cant, Marina Cavazzana, Cristina Díaz de Heredia, Figen Doğu, Karoline Ehlert, Natacha Entz‐Werlé, Anders Fasth, Francesca Ferrua, Alina Ferster, Renata Formánková, Wilhelm Friedrich, Marta González‐Vicent, Jolanta Goździk, Tayfun Güngör, Manfred Hoenig, Aydan İkincioğulları, Krzysztof Kałwak, Savaş Kansoy, Alphan Küpesiz, Arnalda Lanfranchi, Caroline A. Lindemans, Roland Meisel, Gérard Michel, Nuno Miranda, José M. Moraleda, Despina Moshous, Herbert Pichler, Kanchan Rao, Petr Sedláček, Mary Slatter, Elena Soncini, Carsten Speckmann, Mikael Sundin, Amos Toren, Kim Vettenranta, Austen Worth, M. Akif Yeşilipek, Marco Zecca, Fulvio Porta, Ansgar Schulz, Paul Veys, Alain Fischer, Andrew R. Gennery
Abstract
BACKGROUND: Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. OBJECTIVE: We performed a comprehensive multicenter analysis of genotype-specific HSCT outcome, including detailed analysis of immune reconstitution (IR) and the predictive value for clinical outcome. METHODS: HSCT outcome was studied in 338 patients with genetically confirmed SCID who underwent transplantation in 2006-2014 and who were registered in the SCETIDE registry. In a representative subgroup of 152 patients, data on IR and long-term clinical outcome were analyzed. RESULTS: /μL at +1 year were identified as independent predictors of favorable clinical and immunologic outcome. CONCLUSION: Recent advances in HSCT in SCID patients have resulted in improved OS and EFS in all genotypes and donor types. To achieve a favorable long-term outcome, treatment strategies should aim for optimal naive CD4 T lymphocyte regeneration.