Thomas R. Bauer
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View article: 2701. Mycobacterial Immune Reconstitution Inflammatory Syndrome Following Hematopoietic Cell Transplantation for GATA2 Deficiency
2701. Mycobacterial Immune Reconstitution Inflammatory Syndrome Following Hematopoietic Cell Transplantation for GATA2 Deficiency Open
Background Immune reconstitution inflammatory syndrome (IRIS) was first described in patients with HIV and opportunistic infections starting antiretroviral therapy, but may be seen following hematopoietic cell transplantation (HCT) in pati…
View article: A novel <i>GATA2</i> distal enhancer mutation results in MonoMAC syndrome in 2 second cousins
A novel <i>GATA2</i> distal enhancer mutation results in MonoMAC syndrome in 2 second cousins Open
Mutations in the transcription factor GATA2 can cause MonoMAC syndrome, a GATA2 deficiency disease characterized by several findings, including disseminated nontuberculous mycobacterial infections, severe deficiencies of monocytes, natural…
View article: Multiorgan neutrophilic inflammation in a Border Collie with “trapped” neutrophil syndrome
Multiorgan neutrophilic inflammation in a Border Collie with “trapped” neutrophil syndrome Open
Trapped neutrophil syndrome is a rare congenital disease recognized in Border Collies and is characterized by persistent neutropenia with myeloid hyperplasia. The mechanism of neutropenia has not been described. We document the case of a y…
View article: Preclinical Evaluation of Foamy Virus Vector-Mediated Gene Addition in Human Hematopoietic Stem/Progenitor Cells for Correction of Leukocyte Adhesion Deficiency Type 1
Preclinical Evaluation of Foamy Virus Vector-Mediated Gene Addition in Human Hematopoietic Stem/Progenitor Cells for Correction of Leukocyte Adhesion Deficiency Type 1 Open
Ex vivo gene therapy procedures targeting hematopoietic stem and progenitor cells (HSPCs) predominantly utilize lentivirus-based vectors for gene transfer. We provide the first pre-clinical evidence of the therapeutic utility of a foamy vi…
View article: Donor source and post‐transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency
Donor source and post‐transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency Open
Summary GATA2 deficiency was described in 2011, and shortly thereafter allogeneic hematopoietic stem cell transplantation (HSCT) was shown to reverse the hematologic disease phenotype. However, there remain major unanswered questions regar…
View article: <i>ASXL1</i> and <i>STAG2</i> are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome
<i>ASXL1</i> and <i>STAG2</i> are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome Open
Patients with GATA2 deficiencyharbor de novo or inherited germline mutations in the GATA2 transcription factor gene, predisposing them to myeloid malignancies. There is considerable variation in disease progression, even among family membe…
View article: Foamy Virus Vector Carries a Strong Insulator in Its Long Terminal Repeat Which Reduces Its Genotoxic Potential
Foamy Virus Vector Carries a Strong Insulator in Its Long Terminal Repeat Which Reduces Its Genotoxic Potential Open
Strong viral enhancers in gammaretrovirus vectors have caused cellular proto-oncogene activation and leukemia, necessitating the use of cellular promoters in “enhancerless” self-inactivating integrating vectors. However, cellular promoters…
View article: Feline leukocyte adhesion (<scp>CD</scp>18) deficiency caused by a deletion in the integrin β<sub>2</sub>(<i><scp>ITGB</scp>2</i>) gene
Feline leukocyte adhesion (<span>CD</span>18) deficiency caused by a deletion in the integrin β<sub>2</sub>(<i><span>ITGB</span>2</i>) gene Open
Background Leukocyte adhesion deficiency ( LAD ) or CD 18 deficiency is an autosomal recessive immunodeficiency which has been described in people, cattle, dogs, and knockout mice. Objectives The study goals were to characterize the clinic…
View article: 285. Foamy Viral Vector Expressing Human CD18 Results in High Levels of Transduction and Multilineage Engraftment with CD18+ LAD-1 Cells in NSG Mice
285. Foamy Viral Vector Expressing Human CD18 Results in High Levels of Transduction and Multilineage Engraftment with CD18+ LAD-1 Cells in NSG Mice Open
Compared to other classes of retroviral vectors used for HSPC gene therapy, foamy viral vectors (FVV) have distinct advantages, including their non-pathogenicity, a safer integration profile, and a high-efficiency transduction of quiescent…