Carmem Maria Sales Bonfim

Journal Article Bone Marrow Transplant · July 2025 A total of 6767 first hematopoietic cell transplants (HCT), 4121 autologous (61%) and 2646 allogeneic (39%), were reported by 166 teams from 12 Latin American countries that answered the 2022 LABMT/WBMT activity survey. The transplant rate (TR) for Latin A ... Full text Link to item Cite

Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.

Journal Article Bone Marrow Transplant · April 2025 Hematopoietic stem cell transplantation (HSCT) is an established treatment for selected patients with inborn errors of metabolism. In this first report from the PDWP-SBTMO, we included 105 patients transplanted between 1988 and 2021 across six Brazilian HS ... Full text Link to item Cite

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.

Journal Article Blood · December 5, 2024 Telomere biology disorders (TBDs), caused by pathogenic germ line variants in telomere-related genes, present with multiorgan disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBDs is poorly ... Full text Link to item Cite

Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series.

Journal Article Blood · October 17, 2024 Up to 70% of patients with Wiskott-Aldrich syndrome (WAS) develop autoimmune and inflammatory manifestations. Dysregulation of interleukin 1 (IL-1) may be involved in their pathogenesis, yet there is little evidence on treatment with anti-IL-1 agents in th ... Full text Link to item Cite

Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity.

Journal Article Blood · August 1, 2024 HLA-mismatched transplants with either in vitro depletion of CD3+ T-cell receptor (TCR)αβ/CD19 (TCRαβ) cells or in vivo T-cell depletion using posttransplant cyclophosphamide (PTCY) have been increasingly used for patients with inborn errors of immunity (I ... Full text Link to item Cite

An international learning collaborative phase 2 trial for haploidentical bone marrow transplant in sickle cell disease.

Journal Article Blood · June 20, 2024 In the setting of a learning collaborative, we conducted an international multicenter phase 2 clinical trial testing the hypothesis that nonmyeloablative-related haploidentical bone marrow transplant (BMT) with thiotepa and posttransplant cyclophosphamide ... Full text Link to item Cite

Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.

Journal Article Blood Adv · February 13, 2024 Full text Link to item Cite

Differential diagnosis of bone marrow failure syndromes guided by machine learning.

Journal Article Blood · April 27, 2023 The choice to postpone treatment while awaiting genetic testing can result in significant delay in definitive therapies in patients with severe pancytopenia. Conversely, the misdiagnosis of inherited bone marrow failure (BMF) can expose patients to ineffec ... Full text Link to item Cite

Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients.

Journal Article Int J Lab Hematol · February 2023 INTRODUCTION: This study proposed to identify Fanconi anemia (FA) mutations in Brazilian patients and to investigate their impact on clinical manifestations and malignancies onset. METHODS: A total of 116 patients were screened for nine mutations in FANCA, ... Full text Link to item Cite

Somatic mosaicism in patients with Fanconi anaemia: Proposal of alternative tissue for inconclusive diagnoses.

Journal Article Int J Lab Hematol · October 2022 INTRODUCTION: Fanconi anaemia (FA) is a rare genetic disorder marked by progressive bone marrow failure, chromosomal fragility, and increased cancer susceptibility. Laboratory diagnosis includes chromosomal instability test and mutation investigation. A to ... Full text Link to item Cite

Increasing access to hematopoietic cell transplantation in Latin America: results of the 2018 LABMT activity survey and trends since 2012.

Journal Article Bone Marrow Transplant · June 2022 A total of 5642 hematopoietic cell transplants (HCT) in 5445 patients (2196-40% allogeneic and 3249-60% autologous) were reported by 127 teams in 14 Latin American countries that answered the 2018 LABMT/WBMT Global Transplant Activity survey. The transplan ... Full text Link to item Cite

COVID-19 in HSCT recipients: a collaborative study of the Brazilian Society of Marrow Transplantation (SBTMO).

Journal Article Bone Marrow Transplant · March 2022 In the COVID-19 scenario, patients undergoing hematopoietic stem cell transplantation (HSCT) infected with SARS-CoV-2 may have an increased risk of death. Through a national multicenter study, we aimed to describe the impact of COVID-19 on the survival of ... Full text Link to item Cite

Kidney complications in 107 Fanconi anemia patients submitted to hematopoietic cell transplantation.

Journal Article Eur J Pediatr · February 2022 Fanconi anemia (FA) is a rare disease characterized by progressive bone marrow failure, cancer predisposition, and multiple systemic malformations, including congenital abnormalities of the kidney and urinary tract (CAKUT). Hematopoietic cell transplantati ... Full text Link to item Cite

Impact of mother donor, peripheral blood stem cells and measurable residual disease on outcomes after haploidentical hematopoietic cell transplantation with post-transplant cyclophosphamide in children with acute leukaemia.

Journal Article Bone Marrow Transplant · December 2021 Haploidentical hematopoietic-cell transplantation using post-transplant cyclophosphamide(Haplo-PTCy) is a feasible procedure in children with haematologic malignancies. However, data of a large series of children with acute leukaemia(AL) in this setting is ... Full text Link to item Cite

Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study.

Journal Article J Clin Immunol · October 2021 PURPOSE: There is still scarce data on SARS-CoV-2 infection in patients with Inborn Errors of Immunity (IEI) and many unresolved questions. We aimed to describe the clinical outcome of SARS-CoV-2 infection in Brazilian IEI patients and identify factors inf ... Full text Link to item Cite

The impact of donor-specific anti-human leukocyte antigen antibodies in salvage haploidentical hematopoietic cell transplantation with posttransplant cyclophosphamide in patients with nonmalignant disorders.

Journal Article HLA · June 2021 The presence of donor-specific anti-human leukocyte antigen (HLA) antibodies (DSAs) has been recognized as a major risk factor for graft failure (GF) after haploidentical hematopoietic cell transplantation with posttransplant cyclophosphamide (haplo-PTCy). ... Full text Link to item Cite

Brazilian Nutritional Consensus in Hematopoietic Stem Cell Transplantation: children and adolescents.

Journal Article Einstein (Sao Paulo) · 2021 The Brazilian Nutritional Consensus in Hematopoietic Stem Cell Transplantation: Children and Adolescents was developed by dietitians, physicians, and pediatric hematologists from 10 Brazilian reference centers in hematopoietic stem cell transplantation. Th ... Full text Link to item Cite

Hematopoietic cell transplantation in pediatric patients with acute leukemias or myelodysplastic syndrome using unrelated adult or umbilical cord blood donors in Brazil.

Journal Article Pediatr Transplant · November 2020 The choice of alternative donors for HCT for patients without an HLA-matched related donor depends on several factors. We compared major HCT outcomes in 212 consecutive children transplanted at 11 centers in Brazil for acute leukemia or MDS from an HLA-mat ... Full text Link to item Cite

The challenge of long-term follow-up of survivors of childhood acute leukemia after hematopoietic stem cell transplantation in resource-limited countries: A single-center report from Brazil.

Journal Article Pediatr Transplant · June 2020 With the number of long-term HSCT survivors steadily increasing, attention needs to be focused on the late complications and quality of life. We therefore analyzed the outcome of 101 pediatric patients (<18 years old at the time of HSCT) transplanted for a ... Full text Link to item Cite

Impact of pre-transplant depression on outcomes of allogeneic and autologous hematopoietic stem cell transplantation.

Journal Article Cancer · May 15, 2017 BACKGROUND: To evaluate the impact of depression before autologous and allogeneic hematopoietic cell transplantation (HCT) on clinical outcomes post-transplantation. METHODS: We analyzed data from the Center for International Blood and Marrow Transplant Re ... Full text Link to item Cite

Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.

Journal Article Biol Blood Marrow Transplant · August 2013 We describe outcomes after allogeneic transplantation in 34 patients with dyskeratosis congenita who underwent transplantation between 1981 and 2009. The median age at transplantation was 13 years (range, 2 to 35). Approximately 50% of transplantations wer ... Full text Open Access Link to item Cite