Scholars@Duke
Paul Langlie Martin

Paul Langlie Martin

Professor Emeritus of Pediatrics
Pediatrics, Transplant and Cellular Therapy
paul.martin@duke.edu
Box 102502 Med Ctr, Durham, NC 27710
2400 Pratt St, North Pavilion; Room 8045, Durham, NC 27705

Scholarly Works - Journal articles

Upper and Lower Respiratory Tract Compartmentalization in Pediatric Stem Cell Transplantation.

Journal article Am J Respir Cell Mol Biol · May 19, 2026 RATIONALE: Lung injury after hematopoietic stem cell transplantation (HCT) occurs due to infection, chemotherapy toxicity, and alloreactive inflammation. Analyses of bronchoalveolar lavage (BAL) fluid have revealed dominant pathobiologic signatures, but mi ... Full text Link to item Cite

Upper and Lower Respiratory Tract Compartmentalization in Pediatric Stem Cell Transplantation.

Journal article medRxiv · October 17, 2025 RATIONALE: Lung injury after hematopoietic stem cell transplantation (HCT) occurs due to infection, chemotherapy toxicity, and alloreactive inflammation. Analyses of bronchoalveolar lavage (BAL) fluid have revealed dominant pathobiologic signatures, but mi ... Full text Link to item Cite

Integrating pulmonary and systemic transcriptomes to characterize lung injury after pediatric hematopoietic stem cell transplant.

Journal article JCI Insight · September 9, 2025 Hematopoietic stem cell transplantation (HCT) is a potentially life-saving therapy but can lead to lung injury due to chemoradiation toxicity, infection, and immune dysregulationWe previously showed that bronchoalveolar lavage (BAL) transcriptomes represen ... Full text Link to item Cite

Integrating Pulmonary and Systemic Transcriptomic Profiles to Characterize Lung Injury after Pediatric Hematopoietic Stem Cell Transplant.

Journal article medRxiv · April 1, 2025 Hematopoietic stem cell transplantation (HCT) is potentially curative for numerous malignant and non-malignant diseases but can lead to lung injury due to chemoradiation toxicity, infection, and immune dysregulation. Bronchoalveolar lavage (BAL) is the mos ... Full text Link to item Cite

Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes.

Journal article Pediatr Neurol · February 2025 BACKGROUND: Hematopoietic cell transplantation (HCT) is the standard of care treatment for children with Hurler syndrome (HS). This study describes the impact of newborn screening (NBS) on HCT outcomes for these patients. METHODS: Retrospective study of HS ... Full text Link to item Cite

Safety and feasibility of umbilical cord blood transplantation in children with neuronal ceroid lipofuscinosis: a retrospective study.

Journal article Stem Cells Transl Med · January 17, 2025 Ceroid lipofuscinosis neuronal (CLN) encompasses rare inherited neurodegenerative disorders that present in childhood with clinical features including epilepsy, psychomotor delay, progressive vision loss, and premature death. Published experience utilizing ... Full text Link to item Cite

A reduced-toxicity myeloablative conditioning approach for hematopoietic cell transplant in juvenile myelomonocytic leukemia.

Journal article Front Oncol · 2025 INTRODUCTION: Allogeneic hematopoietic cell transplantation (HCT) is a potentially curative treatment for most children with juvenile myelomonocytic leukemia (JMML), but overall survival remains poor at 50%. Given its rarity and heterogeneity, there is no ... Full text Link to item Cite

Pathobiological signatures of dysbiotic lung injury in pediatric patients undergoing stem cell transplantation.

Journal article Nat Med · July 2024 Hematopoietic cell transplantation (HCT) uses cytotoxic chemotherapy and/or radiation followed by intravenous infusion of stem cells to cure malignancies, bone marrow failure and inborn errors of immunity, hemoglobin and metabolism. Lung injury is a known ... Full text Link to item Cite

Clinical and functional spectrum of RAC2-related immunodeficiency.

Journal article Blood · April 11, 2024 Mutations in the small Rho-family guanosine triphosphate hydrolase RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neutrophilic disorder ... Full text Link to item Cite

Case Report: Profound newborn leukopenia related to a novel RAC2 variant.

Journal article Front Pediatr · 2024 We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screens. Ini ... Full text Open Access Link to item Cite

The effects of antibiotic exposures on the gut resistome during hematopoietic cell transplantation in children.

Journal article Gut Microbes · 2024 Antibiotic resistance is a global threat driven primarily by antibiotic use. We evaluated the effects of antibiotic exposures on the gut microbiomes and resistomes of children at high risk of colonization by antibiotic-resistant bacteria. We performed shot ... Full text Link to item Cite

Case Report: Aplastic anemia related to a novel CTLA4 variant.

Journal article Front Pediatr · 2024 A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections. Bone marro ... Full text Open Access Link to item Cite

Pulmonary microbiome and transcriptome signatures reveal distinct pathobiologic states associated with mortality in two cohorts of pediatric stem cell transplant patients.

Journal article medRxiv · November 29, 2023 Lung injury is a major determinant of survival after pediatric hematopoietic cell transplantation (HCT). A deeper understanding of the relationship between pulmonary microbes, immunity, and the lung epithelium is needed to improve outcomes. In this multice ... Full text Link to item Cite

Three-Year Update of Tisagenlecleucel in Pediatric and Young Adult Patients With Relapsed/Refractory Acute Lymphoblastic Leukemia in the ELIANA Trial.

Journal article J Clin Oncol · March 20, 2023 Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are not yet available. Clinical Trial Up ... Full text Link to item Cite

Pediatric Aggressive Mature B-Cell Lymphomas, Version 3.2022, NCCN Clinical Practice Guidelines in Oncology.

Journal article J Natl Compr Canc Netw · November 2022 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Pediatric Aggressive Mature B-Cell Lymphomas include recommendations for the diagnosis and management of pediatric patients with primary mediastinal large B-cell lymphoma (PMBL) and sporad ... Full text Link to item Cite

Sickle Cell Transplantation Evaluation of Long-term and Late Effects Registry (STELLAR) to Compare Long-term Outcomes After Hematopoietic Cell Transplantation to Those in Siblings Without Sickle Cell Disease and in Nontransplanted Individuals With Sickle Cell Disease: Design and Feasibility Study.

Journal article JMIR Res Protoc · July 6, 2022 BACKGROUND: There are sparse data on the long-term and late effects of hematopoietic cell transplantation (HCT) for sickle cell disease (SCD). OBJECTIVE: This study aims to establish an international registry of long-term outcomes post-HCT for SCD and demo ... Full text Link to item Cite

Risk Factors for CMV Viremia and Treatment-Associated Adverse Events Among Pediatric Hematopoietic Stem Cell Transplant Recipients.

Journal article Open Forum Infect Dis · February 2022 BACKGROUND: Cytomegalovirus (CMV) causes substantial morbidity and mortality after hematopoietic stem cell transplantation (HSCT). There are limited data on risk factors for CMV viremia and the safety of antiviral medications used to treat CMV in children. ... Full text Link to item Cite

Outcomes of pediatric patients with therapy-related myeloid neoplasms.

Journal article Bone Marrow Transplant · December 2021 Long-term outcomes after allogeneic hematopoietic cell transplantation (HCT) for therapy-related myeloid neoplasms (tMNs) are dismal. There are few multicenter studies defining prognostic factors in pediatric patients with tMNs. We have accumulated the lar ... Full text Link to item Cite

Parental limited English proficiency in pediatric stem cell transplantation: Clinical impact and health care utilization.

Journal article Pediatr Blood Cancer · September 2021 BACKGROUND: Limited English proficiency (LEP) is associated with adverse clinical outcomes. The clinical impact of LEP in hematopoietic stem cell transplant (HSCT) has not been studied. The objectives of this study were to compare HSCT outcomes and health ... Full text Link to item Cite

Diagnosis, grading and management of toxicities from immunotherapies in children, adolescents and young adults with cancer.

Journal article Nat Rev Clin Oncol · July 2021 Cancer immunotherapies are associated with remarkable therapeutic response rates but also with unique and severe toxicities, which potentially result in rapid deterioration in health. The number of clinical applications for novel immune effector-cell thera ... Full text Link to item Cite

Vitamin D has no impact on outcomes after HSCT in children-A retrospective study.

Journal article Pediatr Transplant · June 2021 Vitamin D not only plays an important role in bone metabolism but is also involved in multiple immune-mediated processes in the body which may be adversely affected in those with low levels. Most pediatric studies evaluating the association of vitamin D in ... Full text Link to item Cite

Association of GATA3 Polymorphisms With Minimal Residual Disease and Relapse Risk in Childhood Acute Lymphoblastic Leukemia.

Journal article J Natl Cancer Inst · April 6, 2021 BACKGROUND: Minimal residual disease (MRD) after induction therapy is one of the strongest prognostic factors in childhood acute lymphoblastic leukemia (ALL), and MRD-directed treatment intensification improves survival. Little is known about the effects o ... Full text Link to item Cite

Real-world evidence of tisagenlecleucel for pediatric acute lymphoblastic leukemia and non-Hodgkin lymphoma.

Journal article Blood Adv · November 10, 2020 Tisagenlecleucel is a CD19 chimeric antigen receptor (CAR) T-cell therapy approved for treatment of pediatric and young adult patients with relapsed/refractory acute lymphoblastic leukemia (ALL) and adults with non-Hodgkin lymphoma (NHL). The initial exper ... Full text Link to item Cite

Anaerobic Antibiotics and the Risk of Graft-versus-Host Disease after Allogeneic Hematopoietic Stem Cell Transplantation.

Journal article Biol Blood Marrow Transplant · November 2020 Certain anaerobic bacteria are important for maintenance of gut barrier integrity and immune tolerance and may influence the risk of graft-versus-host disease (GVHD) after allogeneic hematopoietic stem cell transplantation (HSCT). We conducted a single-cen ... Full text Link to item Cite

Microbiology of Bloodstream Infections in Children After Hematopoietic Stem Cell Transplantation: A Single-Center Experience Over Two Decades (1997-2017).

Journal article Open Forum Infect Dis · November 2020 BACKGROUND: Bloodstream infections (BSIs) occur frequently after hematopoietic stem cell transplantation (HSCT). We examined the microbiology of BSI in pediatric HSCT recipients over a 2-decade period at our institution to inform empirical antimicrobial pr ... Full text Link to item Cite

Results from an international phase 2 study of the anti-CD22 immunotoxin moxetumomab pasudotox in relapsed or refractory childhood B-lineage acute lymphoblastic leukemia.

Journal article Pediatr Blood Cancer · May 2020 BACKGROUND: In a multicenter phase 1 study of children with relapsed/refractory acute lymphoblastic leukemia (ALL), moxetumomab pasudotox, an anti-CD22 immunotoxin, demonstrated a manageable safety profile and preliminary evidence of clinical activity. A p ... Full text Link to item Cite

Randomized assessment of delayed intensification and two methods for parenteral methotrexate delivery in childhood B-ALL: Children's Oncology Group Studies P9904 and P9905.

Journal article Leukemia · April 2020 The delayed intensification (DI) enhanced outcome for patients with acute lymphoblastic leukemia (ALL) treated on BFM 76/79 and CCG 105 after a prednisone-based induction. Childrens Oncology Group protocols P9904/9905 evaluated DI via a post-induction rand ... Full text Link to item Cite

Microbiology and Risk Factors for Hospital-Associated Bloodstream Infections Among Pediatric Hematopoietic Stem Cell Transplant Recipients.

Journal article Open Forum Infect Dis · April 2020 BACKGROUND: Children undergoing hematopoietic stem cell transplantation (HSCT) are at high risk for hospital-associated bloodstream infections (HA-BSIs). This study aimed to describe the incidence, microbiology, and risk factors for HA-BSI in pediatric HSC ... Full text Open Access Link to item Cite

Gut Colonization Preceding Mucosal Barrier Injury Bloodstream Infection in Pediatric Hematopoietic Stem Cell Transplantation Recipients.

Journal article Biol Blood Marrow Transplant · November 2019 The gastrointestinal tract is the predicted reservoir for most bloodstream infections (BSIs) after hematopoietic stem cell transplantation (HSCT). Whole-genome sequencing and comparative genomics have the potential to improve our understanding of the dynam ... Full text Link to item Cite

Genetic Variants Associated With Vincristine-Induced Peripheral Neuropathy in Two Populations of Children With Acute Lymphoblastic Leukemia.

Journal article Clin Pharmacol Ther · June 2019 Vincristine is one of the core chemotherapy agents used in the treatment of pediatric acute lymphoblastic leukemia (ALL). However, one of the major toxicities resulting from vincristine exposure is vincristine-induced peripheral neuropathy (VIPN). When VIP ... Full text Link to item Cite

Reduction in Mortality after Umbilical Cord Blood Transplantation in Children Over a 20-Year Period (1995-2014).

Journal article Biol Blood Marrow Transplant · April 2019 Infections and graft-versus-host disease (GVHD) have historically resulted in high mortality among children undergoing umbilical cord blood transplantation (UCBT). However, recent advances in clinical practice have likely improved outcomes of these patient ... Full text Open Access Link to item Cite

Ethical considerations of using a single minor donor for three bone marrow harvests for three HLA-matched siblings with primary immunodeficiency.

Journal article Pediatr Blood Cancer · April 2019 Allogeneic hematopoietic stem cell transplantation is curative for primary immunodeficiencies. Bone marrow from an unaffected human leukocyte antigen (HLA)-identical sibling donor is the ideal graft source. For minor donors, meaningful consent or assent ma ... Full text Open Access Link to item Cite

Novel susceptibility variants at the ERG locus for childhood acute lymphoblastic leukemia in Hispanics.

Journal article Blood · February 14, 2019 Acute lymphoblastic leukemia (ALL) is the most common malignancy in children. Characterized by high levels of Native American ancestry, Hispanics are disproportionally affected by this cancer with high incidence and inferior survival. However, the genetic ... Full text Link to item Cite

Outcomes after Second Hematopoietic Cell Transplantation in Children and Young Adults with Relapsed Acute Leukemia.

Journal article Biol Blood Marrow Transplant · February 2019 Children with acute leukemia who relapse after hematopoietic cell transplantation (HCT) have few therapeutic options. We studied 251 children and young adults with acute myelogenous or lymphoblastic leukemia who underwent a second HCT for relapse after the ... Full text Link to item Cite

Management guidelines for paediatric patients receiving chimeric antigen receptor T cell therapy.

Journal article Nat Rev Clin Oncol · January 2019 In 2017, an autologous chimeric antigen receptor (CAR) T cell therapy indicated for children and young adults with relapsed and/or refractory CD19+ acute lymphoblastic leukaemia became the first gene therapy to be approved in the USA. This innovative form ... Full text Link to item Cite

Coronary artery occlusion secondary to graft versus host disease after bone marrow transplant in a 21-year-old.

Journal article Cardiol Young · December 2018 Coronary artery disease after bone marrow transplantation is rare in children and young adults. We report the case of a 21-year-old who developed coronary artery disease and acute myocardial infarction secondary to graft versus host disease following bone ... Full text Link to item Cite

Late cardiovascular morbidity and mortality following pediatric allogeneic hematopoietic cell transplantation.

Journal article Bone Marrow Transplant · October 2018 We analyzed late cardiovascular outcomes of 661 patients who survived at least 2 years from hematopoietic cell transplantation for childhood hematologic malignancy between 1995 and 2008. Center for International Blood and Marrow Transplant Research data wa ... Full text Link to item Cite

Outcomes of Measurable Residual Disease in Pediatric Acute Myeloid Leukemia before and after Hematopoietic Stem Cell Transplant: Validation of Difference from Normal Flow Cytometry with Chimerism Studies and Wilms Tumor 1 Gene Expression.

Journal article Biol Blood Marrow Transplant · October 2018 We enrolled 150 patients in a prospective multicenter study of children with acute myeloid leukemia undergoing hematopoietic stem cell transplantation (HSCT) to compare the detection of measurable residual disease (MRD) by a "difference from normal" flow c ... Full text Link to item Cite

Utility of Autopsy among Pediatric Allogeneic Hematopoietic Stem Cell Transplant Recipients: One Last Chance to Learn?

Journal article Biol Blood Marrow Transplant · September 2018 Autopsy may confirm clinical diagnoses or identify conditions that were not suspected prior to a patient's death. Previous studies evaluating the utility of autopsy in hematopoietic stem cell transplant (HSCT) recipients yielded conflicting results. We con ... Full text Open Access Link to item Cite

TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children.

Journal article J Clin Oncol · February 20, 2018 Purpose Germline TP53 variation is the genetic basis of Li-Fraumeni syndrome, a highly penetrant cancer predisposition condition. Recent reports of germline TP53 variants in childhood hypodiploid acute lymphoblastic leukemia (ALL) suggest that this type of ... Full text Link to item Cite

Tisagenlecleucel in Children and Young Adults with B-Cell Lymphoblastic Leukemia.

Journal article N Engl J Med · February 1, 2018 BACKGROUND: In a single-center phase 1-2a study, the anti-CD19 chimeric antigen receptor (CAR) T-cell therapy tisagenlecleucel produced high rates of complete remission and was associated with serious but mainly reversible toxic effects in children and you ... Full text Link to item Cite

Durable Chimerism and Long-Term Survival after Unrelated Umbilical Cord Blood Transplantation for Pediatric Hemophagocytic Lymphohistiocytosis: A Single-Center Experience.

Journal article Biol Blood Marrow Transplant · October 2017 Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder of immune dysregulation characterized by fever, hepatosplenomegaly, cytopenias, central nervous system disease, increased inflammatory markers, and hemophagocytosis. Currently, allogen ... Full text Open Access Link to item Cite

Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia.

Journal article Pediatr Blood Cancer · October 2016 Patients with common variable immunodeficiency (CVID) have a higher incidence of autoimmune disease, which may mark the disease onset; however, anemia secondary to pure red cell aplasia is an uncommon presenting feature. Here, we describe a case of CVID-li ... Full text Link to item Cite

Late Effects after Umbilical Cord Blood Transplantation in Very Young Children after Busulfan-Based, Myeloablative Conditioning.

Journal article Biol Blood Marrow Transplant · September 2016 Infants and young children who undergo allogeneic cord blood transplantation (CBT) are at increased risk for late effects because of exposure of developing organs to chemotherapy and radiation therapy typically used in transplant conditioning regimens. Bus ... Full text Open Access Link to item Cite

Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia.

Journal article J Clin Oncol · June 20, 2016 PURPOSE: Acute pancreatitis is one of the common causes of asparaginase intolerance. The mechanism is unknown, and genetic predisposition to asparaginase-induced pancreatitis has not been previously identified. METHODS: To determine clinical risk factors f ... Full text Link to item Cite

Phase 3 trial of defibrotide for the treatment of severe veno-occlusive disease and multi-organ failure.

Journal article Blood · March 31, 2016 Hepatic veno-occlusive disease (VOD), also called sinusoidal obstruction syndrome (SOS), is a potentially life-threatening complication of hematopoietic stem cell transplantation (HSCT). Untreated hepatic VOD/SOS with multi-organ failure (MOF) is associate ... Full text Link to item Cite

The Diagnostic Yield of Site and Symptom-Based Biopsies for Acute Gastrointestinal Graft-Versus-Host Disease: A 5-Year Retrospective Review.

Journal article Dig Dis Sci · March 2016 BACKGROUND: Graft-versus-host disease (GVHD) complicates half of hematopoietic stem cell transplants (HCT), and the gastrointestinal tract is commonly affected. Endoscopic biopsies have a key role in the diagnosis. The optimal procedure(s) to perform and s ... Full text Link to item Cite

Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience.

Journal article Pediatr Blood Cancer · December 2015 BACKGROUND: X-linked hyper-IgM syndrome (X-HIGM) due to mutations in the gene encoding CD40 ligand results in failure of Ig class switching and an increased propensity for recurrent sinopulmonary and other infections, and thus decreased life expectancy. Al ... Full text Link to item Cite

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.

Journal article Lancet Oncol · December 2015 BACKGROUND: Hereditary predisposition is rarely suspected for childhood acute lymphoblastic leukaemia (ALL). Recent reports of germline ETV6 variations associated with substantial familial clustering of haematological malignancies indicated that this gene ... Full text Link to item Cite

Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation.

Journal article Pediatr Transplant · November 2015 The use of HSCT is the only potentially curative treatment for CAMT, but access is limited by the availability of suitable donors. We report five consecutive patients with CAMT who received MAC and partially HLA-mismatched, UCBT (unrelated, n = 4). Median ... Full text Open Access Link to item Cite

Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements.

Journal article Mol Genet Metab Rep · March 2015 Mucopolysaccharidosis type I (MPS I; Hurler Syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme α-L-iduronidase which affects multiple organs such as central nervous system (CNS), skeletal system, and physical appearance. Hematopo ... Full text Link to item Cite

A novel reduced-intensity conditioning regimen for unrelated umbilical cord blood transplantation in children with nonmalignant diseases.

Journal article Biol Blood Marrow Transplant · March 2014 Reduced-intensity conditioning (RIC) regimens have the potential to decrease transplantation-related morbidity and mortality. However, engraftment failure has been prohibitively high after RIC unrelated umbilical cord blood transplantation (UCBT) in chemot ... Full text Open Access Link to item Cite

Standardization of health care provider competencies for intrathecal access procedures.

Journal article J Pediatr Oncol Nurs · 2014 INTRODUCTION: This quality improvement (QI) project addresses a method for experienced health care providers to maintain skill-based competence for intrathecal access procedures. METHODS: A prospective QI design using intrathecal access simulation to asses ... Full text Open Access Link to item Cite

Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.

Journal article J Natl Cancer Inst · May 15, 2013 BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common cancer in children and the incidence of ALL varies by ethnicity. Although accumulating evidence indicates inherited predisposition to ALL, the genetic basis of ALL susceptibility in diverse ... Full text Link to item Cite

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning.

Journal article Blood · May 9, 2013 We report transplantation outcomes of 258 children with Hurler syndrome (HS) after a myeloablative conditioning regimen from 1995 to 2007. Median age at transplant was 16.7 months and median follow-up was 57 months. The cumulative incidence of neutrophil r ... Full text Open Access Link to item Cite

Genome-wide study of methotrexate clearance replicates SLCO1B1.

Journal article Blood · February 7, 2013 Methotrexate clearance can influence the cure of and toxicity in children with acute lymphoblastic leukemia (ALL). We estimated methotrexate plasma clearance for 1279 patients with ALL treated with methotrexate (24-hour infusion of a 1 g/m2 dose or 4-hour ... Full text Link to item Cite

Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.

Journal article Blood · November 15, 2012 With the use of risk-directed therapy for childhood acute lymphoblastic leukemia (ALL), outcome has improved dramatically in the past 40 years. However, a substantial portion of patients, many of whom have no known risk factors, experience relapse. Taking ... Full text Link to item Cite

Myeloablative transplantation using either cord blood or bone marrow leads to immune recovery, high long-term donor chimerism and excellent survival in chronic granulomatous disease.

Journal article Biol Blood Marrow Transplant · September 2012 The curative potential of hematopoietic stem cell transplantation in patients with chronic granulomatous disease depends on availability of a suitable donor, successful donor engraftment, and maintenance of long-term donor chimerism. Twelve consecutive chi ... Full text Open Access Link to item Cite

Therapeutic monitoring of voriconazole in children less than three years of age: a case report and summary of voriconazole concentrations for ten children.

Journal article Pediatr Infect Dis J · June 2012 Voriconazole is the treatment of choice for invasive aspergillosis and its use is increasing in pediatrics. Minimal pharmacokinetic data exist in young children. We report voriconazole concentrations for 10 children <3 years of age and pharmacokinetic para ... Full text Link to item Cite

Defibrotide for the treatment of hepatic veno-occlusive disease in children after hematopoietic stem cell transplantation.

Journal article Expert Rev Hematol · June 2012 Hepatic veno-occlusive disease (VOD) is a serious complication of stem cell transplantation in children. VOD is characterized by rapid weight gain, hepatomegaly, hyperbilirubinemia and ascites. The pathogenesis of VOD is thought to involve chemotherapy and ... Full text Link to item Cite

ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia.

Journal article J Clin Oncol · March 1, 2012 PURPOSE: Recent genome-wide screens have identified genetic variations in ARID5B associated with susceptibility to childhood acute lymphoblastic leukemia (ALL). We sought to determine the contribution of ARID5B single nucleotide polymorphisms (SNPs) to rac ... Full text Link to item Cite

Implementation of condition help: family teaching and evaluation of family understanding.

Journal article J Nurs Care Qual · 2012 Partnering with families to deliver safe care includes teaching how to activate the rapid response team (RRT) if their hospitalized child's condition worsens. Condition Help (Condition H) is how families call the RRT. Pediatric nurses used scripted Conditi ... Full text Link to item Cite

Umbilical cord blood: a guide for primary care physicians.

Journal article Am Fam Physician · September 15, 2011 Umbilical cord blood stem cell transplants are used to treat a variety of oncologic, genetic, hematologic, and immunodeficiency disorders. Physicians have an important role in educating, counseling, and offering umbilical cord blood donation and storage op ... Open Access Link to item Cite

Allogeneic transplantation for patients with high-risk or refractory neuroblastoma.

Journal article J Clin Oncol · May 20, 2011 9552 Background: While the survival of high-risk neuroblastoma patients has improved with myeloablative chemotherapy (MAC) and 13-cis retinoic acid, 60% of children fail this approach, thus other strategies are needed. As a potential platform for future im ... Link to item Cite

Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia.

Journal article Nat Genet · March 2011 Although five-year survival rates for childhood acute lymphoblastic leukemia (ALL) are now over 80% in most industrialized countries, not all children have benefited equally from this progress. Ethnic differences in survival after childhood ALL have been r ... Full text Link to item Cite

Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group.

Journal article Blood · August 19, 2010 Children with Down syndrome (DS) have an increased risk of acute lymphoblastic leukemia (ALL) and an inferior outcome. We reviewed data from 2811 children with ALL enrolled in Children's Oncology Group P9900, which included prospective testing for the majo ... Full text Link to item Cite

Defibrotide for the treatment of severe hepatic veno-occlusive disease and multiorgan failure after stem cell transplantation: a multicenter, randomized, dose-finding trial.

Journal article Biol Blood Marrow Transplant · July 2010 Therapeutic options for severe hepatic veno-occlusive disease (VOD) are limited and outcomes are dismal, but early phase I/II studies have suggested promising activity and acceptable toxicity using the novel polydisperse oligonucleotide defibrotide. This r ... Full text Open Access Link to item Cite

Hepatic veno-occlusive disease following stem cell transplantation: incidence, clinical course, and outcome.

Journal article Biol Blood Marrow Transplant · February 2010 The occurrence of hepatic veno-occlusive disease (VOD) has been reported in up to 60% of patients following stem cell transplantation (SCT), with incidence varying widely between studies depending on the type of transplant, conditioning regimen, and criter ... Full text Link to item Cite

Unrelated donor umbilical cord blood transplantation in pediatric myelodysplastic syndrome: a single-center experience.

Journal article Biol Blood Marrow Transplant · August 2009 Featured Publication Myelodysplastic syndromes (MDS) respond poorly to chemotherapy. Between 1995 and 2006, 23 pediatric patients with MDS were transplanted with unrelated donor umbilical cord blood (UUCB) at our center. The median age was 11.1 years (range: 1.1-19.7), median ... Full text Link to item Cite

Easing the TBI Experience in the Pre-School Patient

Journal article Biology of Blood and Marrow Transplantation · February 2009 Full text Cite

Unrelated Umbilical Cord Blood Transplantation is an Effective Therapy for Wiskott-Aldrich Syndrome

Journal article Biology of Blood and Marrow Transplantation · February 2009 Full text Cite

Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes.

Journal article Blood · October 1, 2008 Featured Publication Outcomes of 159 young patients with inherited metabolic disorders (IMDs) undergoing transplantation with partially HLA-mismatched unrelated donor umbilical cord blood were studied to investigate the impact of graft and patient characteristics on engraftmen ... Full text Link to item Cite

Posttransplant autoimmune hemolytic anemia and other autoimmune cytopenias are increased in very young infants undergoing unrelated donor umbilical cord blood transplantation.

Journal article Biol Blood Marrow Transplant · October 2008 Featured Publication Autoimmune cytopenias are a recognized complication of hematopoietic stem cell transplant (HSCT), and are considered to be a feature of chronic graft-versus-host disease (cGVHD). We report on a cohort of very young infants (< or =3 months of age) receiving ... Full text Link to item Cite

Clinical significance of minimal residual disease in childhood acute lymphoblastic leukemia and its relationship to other prognostic factors: a Children's Oncology Group study.

Journal article Blood · June 15, 2008 Featured Publication Minimal residual disease (MRD) is an important predictor of relapse in acute lymphoblastic leukemia (ALL), but its relationship to other prognostic variables has not been fully assessed. The Children's Oncology Group studied the prognostic impact of MRD me ... Full text Link to item Cite

Comparison of the biology of Down syndrome (DS) acute lymphoblastic leukemia (ALL) and non-DS ALL: Children's Oncology Group (COG) study P9900.

Journal article J Clin Oncol · May 20, 2008 10003 Background: DS ALL is a heterogeneous disorder with inferior survival compared to non-DS. Controversy exists regarding the relative frequencies of sentinel cytogenetic lesions in children with DS and ALL. METHODS: COG P9900 was a laboratory classific ... Link to item Cite

Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Journal article Blood · March 15, 2008 Featured Publication Minimal residual disease (MRD) as a marker of antileukemic drug efficacy is being used to assess risk status and, in some cases, to adjust the intensity of therapy. Within known prognostic categories, the determinants of MRD are not known. We measured MRD ... Full text Link to item Cite

Acute myelogenous leukemia associated with Ollier disease.

Journal article Pediatr Blood Cancer · March 2008 Featured Publication Ollier disease is a rare disorder characterized by the presence of multiple enchondromas and a propensity to develop malignancies. We report the case of a 7-year-old Caucasian male with Ollier disease who developed acute myelogenous leukemia (AML). This re ... Full text Link to item Cite

Correction of chronic granulomatous disease after second unrelated-donor umbilical cord blood transplantation.

Journal article Pediatr Blood Cancer · December 2007 Featured Publication Allogeneic hematopoietic stem cell transplantation (HSCT) is curative for chronic granulomatous disease (CGD), but many patients lack a suitably matched related donor. We report successful outcomes after mismatched, unrelated-donor umbilical cord blood tra ... Full text Link to item Cite

Antimetabolite therapy for lesser-risk B-lineage acute lymphoblastic leukemia of childhood: a report from Children's Oncology Group Study P9201.

Journal article Blood · August 15, 2007 Featured Publication Pediatric Oncology Group (POG) protocol 9201 enrolled children with lesser-risk B-lineage acute lymphoblastic leukemia (ALL) defined by age (1-9), white blood cell count (WBC) less than 50 x 10(9)/L (50,000/microL), DNA findings of trisomies 4 and 10 (or D ... Full text Link to item Cite

Prospective Aspergillus galactomannan antigen testing in pediatric hematopoietic stem cell transplant recipients.

Journal article Pediatr Infect Dis J · July 2007 Featured Publication BACKGROUND: The galactomannan (GM) assay is an approved noninvasive test for detection of invasive aspergillosis (IA) that has been validated in adult patients with hematologic malignancies who are undergoing bone marrow transplantation. There have been fe ... Full text Link to item Cite

Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy.

Journal article Biol Blood Marrow Transplant · June 2007 Featured Publication Adrenoleukodystrophy (ALD) is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. The disease typically presents in young boys and adolescent boys. Allogeneic bone marr ... Full text Link to item Cite

The Addition of Fludarabine to a Conventional Busulfan/Melphalan/Anti-Thymocyte Globulin (Flu/Bu/Mel/ATG) Preparative Regimen Increased Engraftment without Additional Toxicity.

Journal article Blood · November 16, 2006 AbstractBusulfan/Melphalan/ATG (Bu/Mel/ATG) have been used as a preparative regimen in children undergoing hematopoetic stem cell transplantation who are too young for or who cannot tolerate total body irrad ... Full text Cite

To stop or not to stop: how much support should be provided to mechanically ventilated pediatric bone marrow and stem cell transplant patients?

Journal article Respir Care Clin N Am · September 2006 Featured Publication Every publication to date reporting the outcome of intensive care support for pediatric SCT patients must be viewed with caution because all are single-institution, retrospective reports. Nevertheless, some of the conclusions made by these investigators ap ... Full text Link to item Cite

Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases.

Journal article Biol Blood Marrow Transplant · February 2006 Featured Publication The Cord Blood Transplantation Study (COBLT), sponsored by the National Heart, Lung, and Blood Institute, is a phase II multicenter study designed to evaluate the use of cord blood in allogeneic transplantation. In this report, we evaluated the outcomes of ... Full text Link to item Cite

Comparison of diagnostic and relapse flow cytometry phenotypes in childhood acute lymphoblastic leukemia: implications for residual disease detection: a report from the children's oncology group.

Journal article Cytometry B Clin Cytom · November 2005 Featured Publication BACKGROUND: Flow cytometric analysis of minimal residual disease (MRD) depends on detecting phenotypically abnormal populations. However, little is known about how phenotypic shifts between diagnosis and relapse affect MRD detection in childhood acute lymp ... Full text Link to item Cite

The incidence of testicular recurrence in boys with acute leukemia treated with total body and testicular irradiation and stem cell transplantation.

Journal article Cancer · August 15, 2004 Featured Publication BACKGROUND: The incidence of testicular recurrence of childhood acute leukemia after total body irradiation (TBI) in conjunction with stem cell transplantation (SCT) has been reported to be as high as 24%. The authors studied the incidence of testicular fa ... Full text Link to item Cite

Unrelated umbilical cord blood transplantation for an infant with beta-thalassemia major.

Journal article J Pediatr Hematol Oncol · June 2004 Featured Publication BACKGROUND: beta-thalassemia major, one of the most prevalent hemoglobinopathies throughout the world, can be cured by allogeneic stem cell transplantation therapy. Many patients, however, lack a suitably matched related donor. Unrelated umbilical cord blo ... Full text Link to item Cite

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.

Journal article N Engl J Med · May 6, 2004 Featured Publication BACKGROUND: Hurler's syndrome (the most severe form of mucopolysaccharidosis type I) causes progressive deterioration of the central nervous system and death in childhood. Allogeneic bone marrow transplantation before the age of two years halts disease pro ... Full text Link to item Cite

Augmentation of umbilical cord blood (UCB) transplantation with ex vivo-expanded UCB cells: results of a phase 1 trial using the AastromReplicell System.

Journal article Blood · June 15, 2003 Featured Publication Allogeneic stem cell transplantation with umbilical cord blood (UCB) cells is limited by the cell dose a single unit provides recipients. Ex vivo expansion is one strategy to increase the number of cells available for transplantation. Aastrom Biosciences d ... Full text Link to item Cite

High-dose chemotherapy with autologous stem-cell rescue in children and adults with newly diagnosed pineoblastomas.

Journal article J Clin Oncol · June 1, 2003 Featured Publication PURPOSE: We evaluated the usefulness of a treatment regimen that included high-dose chemotherapy (HDC) with autologous stem-cell rescue (ASCR) in patients with newly diagnosed pineoblastoma (PBL). PATIENTS AND METHODS: Twelve patients with PBL were initial ... Full text Link to item Cite

Marrow cell transplantation for infantile hypophosphatasia.

Journal article J Bone Miner Res · April 2003 Featured Publication An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP), underwent the first trial of ... Full text Link to item Cite

Mechanically ventilated pediatric stem cell transplant recipients: effect of cord blood transplant and organ dysfunction on outcome.

Journal article Pediatr Crit Care Med · April 2003 Featured Publication OBJECTIVES: To compare survival of pediatric umbilical cord blood and bone marrow transplant recipients requiring admission to a pediatric intensive care unit for mechanical ventilation and to determine the effect of organ dysfunction on outcome. DESIGN: R ... Full text Link to item Cite

Multi-institutional use of defibrotide in 88 patients after stem cell transplantation with severe veno-occlusive disease and multisystem organ failure: response without significant toxicity in a high-risk population and factors predictive of outcome.

Journal article Blood · December 15, 2002 Featured Publication Veno-occlusive disease (VOD) is the most common regimen-related toxicity accompanying stem cell transplantation (SCT). Severe VOD complicated by multisystem organ failure (MOF) remains almost uniformly fatal. Preliminary experience with defibrotide (DF), a ... Full text Link to item Cite

Infections diagnosed in the first year after pediatric stem cell transplantation.

Journal article Pediatr Infect Dis J · March 2002 Featured Publication BACKGROUND: Cumulative incidence of infections in the first year posttransplantation in adult patients has been well-described. Such description is less than complete for pediatric stem cell transplantation (SCT) patients. Further among those patients who ... Full text Link to item Cite

Human herpesvirus 6 limbic encephalitis after stem cell transplantation.

Journal article Ann Neurol · November 2001 Featured Publication Central nervous system complications are common in stem cell transplant recipients, but selective involvement of the medial temporal area is unusual. The 5 patients reported here presented after stem cell transplantation with increased hippocampal T2 signa ... Full text Link to item Cite

Management of cholelithiasis in pediatric patients who undergo bone marrow transplantation.

Journal article J Pediatr Surg · January 2001 PURPOSE: The aim of this study was to determine the incidence, risk factors, and proper management for asymptomatic cholelithiasis in children undergoing bone marrow transplantation (BMT). METHODS: The authors reviewed retrospectively the records of 575 ch ... Full text Link to item Cite

Low incidence of Epstein-Barr virus-associated posttransplantation lymphoproliferative disorders in 272 unrelated-donor umbilical cord blood transplant recipients.

Journal article Biol Blood Marrow Transplant · 2001 Featured Publication Umbilical cord blood (UCB) is being increasingly used for transplantation, but the ability of neonatal T cells to regulate Epstein-Barr virus (EBV)-associated lymphoproliferation is unknown. Because UCB transplantation (UCBT) is associated with a relativel ... Full text Link to item Cite

Graft-versus-leukemia-induced complete remission following unrelated umbilical cord blood transplantation for acute leukemia.

Journal article Bone Marrow Transplant · December 2000 Featured Publication A 15-year-old female received an unrelated three of six HLA antigen matched umbilical cord blood (UCB) transplant for refractory, relapsed T-cell ALL. Conditioning consisted of TBI, melphalan, and anti-thymocyte globulin (ATG), with cyclosporin A (CsA) and ... Full text Link to item Cite

High dose chemotherapy followed by transplantation of unrelated, banked, umbilical cord blood provides curative therapy for young pediatric patients with familial erythrophagocytic lymphohistiocytosis fed

Journal article Blood · December 1, 2000 Familial erythrophagocytic lymphohistiocytosis (PEL) is an inherited disease that is uniformly fatal without myeloablation and transplantation therapy. Frequently babies and young children with this condition need to proceed to transplant rapidly before di ... Cite

Outcomes of unrelated umbilical cord blood transplantation in 158 pediatric patients consecutively transplanted at a single institution using cord blood units from a single bank

Journal article Blood · December 1, 2000 Over the past decade, umbilical cord blood (UCB) has been shown to provide adequate stem cells for bone marrow reconstitution after myeloablative therapy. Reports to date include 2 from registries and a few small pilot studies, but there have been no repor ... Cite

Unrelated umbilical cord blood transplant for osteopetrosis

Journal article Blood · December 1, 2000 Severe osteopetrosis is a uniformly fatal disease that affects infants and young children. Stem cell transplantation can be curative since the patient's defective osteoclasts are replaced by functional donor osteoclasts. Due to encroachment of cranial nerv ... Cite

When you hear hoof beats...do not forget the zebras.

Journal article Curr Opin Pediatr · April 2000 Featured Publication Full text Link to item Cite

Toxicity, pharmacology and feasibility of administration of PEG-L-asparaginase as consolidation therapy in patients undergoing bone marrow transplantation for acute lymphoblastic leukemia.

Journal article Bone Marrow Transplant · May 1998 Featured Publication We attempted to administer PEG-L-asparaginase (PEG-L-A) following hematologic recovery to 38 patients undergoing autologous or allogeneic marrow transplantation for acute lymphoblastic leukemia (ALL). Twenty-four patients (12 of 22 receiving allogeneic and ... Full text Link to item Cite

Comparison of fluorescence in situ hybridization, cytogenetic analysis, and DNA index analysis to detect chromosomes 4 and 10 aneuploidy in pediatric acute lymphoblastic leukemia: a Pediatric Oncology Group study.

Journal article J Pediatr Hematol Oncol · May 1996 Featured Publication PURPOSE: Chromosome abnormalities are an important prognostic factor in childhood acute lymphoblastic leukemia (ALL). Recently, a subset of patients with hyperdiploid ALL and trisomy of chromosomes 4 and 10 has been reported to have a very favorable event- ... Full text Link to item Cite

Relationship of DNA ploidy to histology and prognosis in rhabdomyosarcoma. Comparison of flow cytometry and image analysis.

Journal article Cancer · December 15, 1994 Featured Publication BACKGROUND: Although DNA ploidy correlates with prognosis in certain childhood cancers, e.g., neuroblastoma, its significance in rhabdomyosarcoma (RMS) is unclear and controversial. METHODS: Ploidy by flow cytometry (FCM) and image analysis (IA) in 26 of 2 ... Full text Link to item Cite

Bone marrow transplantation in the perinatal period.

Journal article Semin Perinatol · October 1990 Featured Publication Link to item Cite

Formation of a rate-limiting intermediate in 5S RNA gene transcription.

Journal article Cell · January 1985 We have performed in vitro kinetic analyses of transcription from the 5S gene promoter in order to resolve the rate-limiting events which lead to accurate transcription of the 5S RNA gene. We demonstrate that a rate-limiting intermediate can be formed duri ... Full text Link to item Cite

Transcription of class III genes: formation of preinitiation complexes.

Journal article Science · November 18, 1983 Class III genes require multiple cellular factors for transcription by RNA polymerase III; these genes form stable transcription complexes, which in the case of Xenopus 5S genes are correlated with differential expression in vivo. The minimal number and id ... Full text Link to item Cite