21 Result(s)
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Robbert G. M. Bredius
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Article
Open AccessClinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort
Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 c...
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First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency
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Article
Open AccessT and NK Cells in IL2RG-Deficient Patient 50 Years After Hematopoietic Stem Cell Transplantation
The first successful European hematopoietic stem cell transplantation (HSCT) was performed in 1968 as treatment in a newborn with IL2RG deficiency using an HLA-identical sibling donor. Because of declining nai...
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Article
Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genoty** in Both Mother and Child
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Article
Genetic susceptibility to acute graft versus host disease in pediatric patients undergoing HSCT
The most frequent complication of allogeneic hematopoietic stem cell transplantation is acute Graft versus Host Disease (aGVHD). Proliferation and differentiation of donor T cells initiate inflammatory respons...
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Article
Open AccessTreosulfan-induced myalgia in pediatric hematopoietic stem cell transplantation identified by an electronic health record text mining tool
Treosulfan is increasingly used as myeloablative agent in conditioning regimen prior to allogeneic hematopoietic stem cell transplantation (HSCT). In our pediatric HSCT program, myalgia was regularly observed ...
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Successful mismatched hematopoietic stem cell transplantation for pediatric hemoglobinopathy by using ATG and post-transplant cyclophosphamide
The use of HLA-mismatched (un)related donors is historically associated with a higher incidence of transplant-related complications and mortality. However, the use of such donors may overcome the limited avail...
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Article
Open AccessImmunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency
Patients with an IgG subclass deficiency (IgSD) ± specific polysaccharide antibody deficiency (SPAD) often present with recurrent infections. Previous retrospective studies have shown that prophylactic antibio...
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Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency
Knowledge of post-hematopoietic cell transplantation (HCT) non-hematological autoimmune disease (AD) is far from satisfactory.
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Article
Open AccessParents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands
While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if hi...
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Article
Plasmapheresis to eliminate immunosuppressive alemtuzumab levels in a child with disseminated adenovirus infection after allogeneic stem cell transplantation
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Article
Open AccessPopulation Pharmacokinetics of Alemtuzumab (Campath) in Pediatric Hematopoietic Cell Transplantation: Towards Individualized Dosing to Improve Outcome
Alemtuzumab (Campath®) is used to prevent graft-versus-host disease and graft failure following pediatric allogeneic hematopoietic cell transplantation. The main toxicity includes delayed immune reconstitution, s...
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Article
Cost-effectiveness of newborn screening for severe combined immunodeficiency
Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment before infections occur, largel...
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Long-term aprepitant for nausea and vomiting associated with gastroparesis in hematopoietic stem cell transplantation
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Article
Open AccessDeletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients
Complete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The pu...
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Open AccessOverview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem ...
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Open AccessPharmacokinetics of rituximab in a pediatric patient with therapy-resistant nephrotic syndrome
Rituximab (RTX) has recently been introduced as a second-line therapy for nephrotic syndrome in children. Studies show that RTX given during the nephrotic state may be less effective than treatment during a no...
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Article
Population Pharmacokinetic Modeling of Thymoglobulin® in Children Receiving Allogeneic-Hematopoietic Cell Transplantation: Towards Improved Survival Through Individualized Dosing
To prevent graft-versus-host disease and rejection in hematopoietic cell transplantation (HCT), children receive Thymoglobulin®, a polyclonal antibody acting mainly by depleting T cells. The therapeutic window is...
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Article
Body Weight-Dependent Pharmacokinetics of Busulfan in Paediatric Haematopoietic Stem Cell Transplantation Patients
Background and Objectives: The wide variability in pharmacokinetics of busulfan in children is one factor influencing outcomes such as toxicity and event-free survival. A meta-analysis was conduc...
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Open AccessChild and parental adaptation to pediatric stem cell transplantation
Allogeneic pediatric stem cell transplantation (SCT) is a very intensive treatment with a high mortality and morbidity. The objectives of this study were to assess the (1) self- and proxy-reported health-relat...
