Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies in Brazil - a Survey of the Working Group on Paediatric Transplantation of the Brazilian Society of Bone Marrow Transplantation

Hematopoietic Stem Cell Transplantation (HSCT) is curative in a large number of primary immunodeficiencies (PID). The first transplant in PID in Brazil was held in 1992 at the Hospital de Clínicas da Universidade Federal do Paraná. Since then, in Brazil, only few centers have performed transplants in these pathologies. Objective: Retrospective analysis of outcomes of HSCT performed in patients with PID in 10 Brazilian centers participating in the working group of pediatric transplantation of the Brazilian Society of BMT (SBTMO). From 1992 to April 2014, 166 patients underwent HSCT on PID in 10 different centers in Brazil, mostly in the Hospital of UFPR (n = 90), followed by the Hospital Israelita Albert Einstein (n = 27 ) and the other centers with 10 or fewer. Most patients were male (M = 130, F = 36), and most patients had age lower than 3 years (n = 119). The diagnoses were distributed among: Wiskott-Aldrich syndrome (n = 56); Severe Combined Immunodeficiency (n = 52); Chronic granulomatous disease (n = 14); Familiar Hemophagocytic lymphohistiocytosis (n = 13); Chediak-Higashi Syndrome (n = 12); Hyper-IgM syndrome (n = 5); Severe congenital neutropenia (n = 5); IPEX syndrome (n = 3); combined immunodeficiency disease (n = 2); Leukocyte Adhesion Deficiency (n = 2); Deficiency of IFN-gamma (n = 1) and Griscelli syndrome (n = 1). Thirty-two patients received transplants from identical sibling donors, 112 unrelated donors, and 22 other family donors (10/10 compatible or haploidentical). Graft was bone marrow in 84 cases, umbilical cord blood in 78 cases and 4 patients received stem cells from peripheral blood. Ninety-nine patients received myeloablative transplants (including busulfan> 8mg / Kg), 55 patients received reduced toxicity conditioning and 12 patients received no conditioning. The prophylaxis of graft-versus-host disease was performed with cyclosporine A in most cases, associated with mycophenolate mofetil, methotrexate or steroids. Overall survival was 68.7% at 3 years. In univariate analysis, there was no statistical difference between gender, diagnosis, age at HSCT, year of transplant, source of cells, or donor type. Among the most frequent pathologies groups, analysis was done in 2 groups, the severe combined immunodeficiency (n = 52), and the Wiskott-Aldrich syndrome (n = 56) Syndrome. In these subgroups, the overall survival at 3 years was 60% and 79%, respectively. Conclusion: This is the first survey made on tranplants on primary immunodeficiencies in Brazil. Despite the difficulties in diagnosing and referral of these children for special treatment in our country, we have seen that the overall survival of our patients is not different than those reported in international studies in Europe or North America. This survey is extremely important to have the results of these cases in Brazil, and identify areas to improve the outcomes of transplants in lower income countries.