Curative allogeneic hematopoietic stem cell transplantation following reduced toxicity conditioning in adults with primary immunodeficiency

• Published in: Bone marrow transplantation (Basingstoke) 2022-10, Vol.57 (10), p.1520-1530
• Main Authors: Marçais, Ambroise, Mahlaoui, Nizar, Neven, Bénédicte, Lanternier, Fanny, Catherinot, Émilie, Salvator, Hélène, Cheminant, Morgane, Jeljeli, Maxime, Asnafi, Vahid, van Endert, Peter, Couderc, Louis-Jean, Lortholary, Olivier, Picard, Capucine, Moshous, Despina, Hermine, Olivier, Fischer, Alain, Suarez, Felipe
• Format: Article
• Language: English
• Subjects: 692/699/1541; 692/700/565/2319; Adults; Bone marrow; Busulfan; Cell Biology; Chimerism; Chronic granulomatous disease; Complications; Conditioning; Fludarabine; Graft-versus-host reaction; Hematology; Hematopoietic stem cells; Immune reconstitution; Immune system; Immunodeficiency; Internal Medicine; Life Sciences; Medicine; Medicine & Public Health; Patients; Pediatrics; Primary immunodeficiencies; Prophylaxis; Public Health; Stem cell transplantation; Stem Cells; Toxicity; Transplantation; Young adults
• ISSN: 0268-3369; 1476-5365
• DOI: 10.1038/s41409-022-01739-x

Primary immunodeficiencies (PID) are heterogeneous inborn errors of the immune system. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is curative and safe at the pediatric age but remains underperformed in adults. We report our experience on 32 consecutive adult patients with various PID including 17 (53%) with a combined immune deficiency, six (19%) with a disease of immune dysregulation and nine (28%) with a chronic granulomatous disease (CGD) who underwent an allo-HSCT between 2011 and 2020. The median age at transplant was 27 years (17–41). All assessable patients engrafted. The majority of patients received a fludarabine-Busulfan (FB) based regimen (FB2-3 in 16, FB4 in 12). Overall survival (OS) was 80.4% (100% for CGD and 74% for other PID patients) at 9 months and beyond (median follow-up 51.6 months). Six patients died, all in the first-year post-transplant. Cumulative incidences of grade II–IV acute GVHD/chronic GVHD were 18%/22%. Stem cell source, GVHD prophylaxis and conditioning intensity had no impact on OS. All surviving patients had over 90% donor chimerism, immune reconstitution, no sign of active PID related complications and were clinically improved. Allo-HSCT is effective in young adults PID patients with an acceptable toxicity and should be discussed in case of life-threatening PID.