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3. Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy

Author

Baloh, Carolyn H, Borkar, Samiksha A, Chang, Kai-Fen, Yao, Jiqiang, Hershfield, Michael S, Parikh, Suhag H, Kohn, Donald B, Goodenow, Maureen M, Sleasman, John W, and Yin, Li

Subjects
Medical Biotechnology, Biomedical and Clinical Sciences, Pediatric, Biotechnology, Clinical Research, Stem Cell Research, Genetics, Gene Therapy, Hematology, Good Health and Well Being, Adenosine Deaminase, Agammaglobulinemia, Enzyme Replacement Therapy, Female, Genetic Therapy, Humans, Immunoglobulin Heavy Chains, Infant, Lymphocyte Count, Severe Combined Immunodeficiency, Severe combined immune deficiency, adenosine deaminase deficiency, gene therapy, B cell repertoire, immunoglobulin sequencing, Immunology
Abstract

PurposeAdenosine deaminase (ADA) deficiency causes severe combined immunodeficiency (SCID) through an accumulation of toxic metabolites within lymphocytes. Recently, ADA deficiency has been successfully treated using lentiviral-transduced autologous CD34+ cells carrying the ADA gene. T and B cell function appears to be fully restored, but in many patients' B cell numbers remain low, and assessments of the immunoglobulin heavy (IgHV) repertoire following gene therapy are lacking.MethodsWe performed deep sequencing of IgHV repertoire in peripheral blood lymphocytes from a child following lentivirus-based gene therapy for ADA deficiency and compared to the IgHV repertoire in healthy infants and adults.ResultsAfter gene therapy, Ig diversity increased over time as evidenced by V, D, and J gene usage, N-additions, CDR3 length, extent of somatic hypermutation, and Ig class switching. There was the emergence of predominant IgHM, IgHG, and IgHA CDR3 lengths after gene therapy indicating successful oligoclonal expansion in response to antigens. This provides proof of concept for the feasibility and utility of molecular monitoring in following B cell reconstitution following gene therapy for ADA deficiency.ConclusionBased on deep sequencing, gene therapy resulted in an IgHV repertoire with molecular diversity similar to healthy infants.

Published
2021

4. Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency

Author

Kohn, Donald B, Booth, Claire, Shaw, Kit L, Xu-Bayford, Jinhua, Garabedian, Elizabeth, Trevisan, Valentina, Carbonaro-Sarracino, Denise A, Soni, Kajal, Terrazas, Dayna, Snell, Katie, Ikeda, Alan, Leon-Rico, Diego, Moore, Theodore B, Buckland, Karen F, Shah, Ami J, Gilmour, Kimberly C, De Oliveira, Satiro, Rivat, Christine, Crooks, Gay M, Izotova, Natalia, Tse, John, Adams, Stuart, Shupien, Sally, Ricketts, Hilory, Davila, Alejandra, Uzowuru, Chilenwa, Icreverzi, Amalia, Barman, Provaboti, Campo Fernandez, Beatriz, Hollis, Roger P, Coronel, Maritess, Yu, Allen, Chun, Krista M, Casas, Christian E, Zhang, Ruixue, Arduini, Serena, Lynn, Frances, Kudari, Mahesh, Spezzi, Andrea, Zahn, Marco, Heimke, Rene, Labik, Ivan, Parrott, Roberta, Buckley, Rebecca H, Reeves, Lilith, Cornetta, Kenneth, Sokolic, Robert, Hershfield, Michael, Schmidt, Manfred, Candotti, Fabio, Malech, Harry L, Thrasher, Adrian J, and Gaspar, H Bobby

Subjects
Medical Biotechnology, Biomedical and Clinical Sciences, Biotechnology, Transplantation, Gene Therapy, Genetics, Regenerative Medicine, Clinical Research, Stem Cell Research, Stem Cell Research - Nonembryonic - Human, Evaluation of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, 6.2 Cellular and gene therapies, Good Health and Well Being, Adenosine Deaminase, Adolescent, Agammaglobulinemia, Child, Child, Preschool, Genetic Therapy, Genetic Vectors, Hematopoietic Stem Cell Transplantation, Humans, Infant, Lentivirus, Lymphocyte Count, Progression-Free Survival, Prospective Studies, Severe Combined Immunodeficiency, Transplantation, Autologous, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundSevere combined immunodeficiency due to adenosine deaminase (ADA) deficiency (ADA-SCID) is a rare and life-threatening primary immunodeficiency.MethodsWe treated 50 patients with ADA-SCID (30 in the United States and 20 in the United Kingdom) with an investigational gene therapy composed of autologous CD34+ hematopoietic stem and progenitor cells (HSPCs) transduced ex vivo with a self-inactivating lentiviral vector encoding human ADA. Data from the two U.S. studies (in which fresh and cryopreserved formulations were used) at 24 months of follow-up were analyzed alongside data from the U.K. study (in which a fresh formulation was used) at 36 months of follow-up.ResultsOverall survival was 100% in all studies up to 24 and 36 months. Event-free survival (in the absence of reinitiation of enzyme-replacement therapy or rescue allogeneic hematopoietic stem-cell transplantation) was 97% (U.S. studies) and 100% (U.K. study) at 12 months; 97% and 95%, respectively, at 24 months; and 95% (U.K. study) at 36 months. Engraftment of genetically modified HSPCs persisted in 29 of 30 patients in the U.S. studies and in 19 of 20 patients in the U.K. study. Patients had sustained metabolic detoxification and normalization of ADA activity levels. Immune reconstitution was robust, with 90% of the patients in the U.S. studies and 100% of those in the U.K. study discontinuing immunoglobulin-replacement therapy by 24 months and 36 months, respectively. No evidence of monoclonal expansion, leukoproliferative complications, or emergence of replication-competent lentivirus was noted, and no events of autoimmunity or graft-versus-host disease occurred. Most adverse events were of low grade.ConclusionsTreatment of ADA-SCID with ex vivo lentiviral HSPC gene therapy resulted in high overall and event-free survival with sustained ADA expression, metabolic correction, and functional immune reconstitution. (Funded by the National Institutes of Health and others; ClinicalTrials.gov numbers, NCT01852071, NCT02999984, and NCT01380990.).

Published
2021

5. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2

Author

Chen, Liang, Mamutova, Anna, Kozlova, Anna, Latysheva, Elena, Evgeny, Frolov, Latysheva, Tatiana, Savostyanov, Kirill, Pushkov, Alexander, Zhanin, Ilya, Raykina, Elena, Kurnikova, Maria, Mersiyanova, Irina, Platt, Craig D., Jee, Hyuk, Brodeur, Kailey, Du, Yan, Liu, Meng, Weiss, Aaron, Schulert, Grant S., Rodriguez-Smith, Jackeline, Hershfield, Michael S., Aksentijevich, Ivona, Zhou, Qing, Nigrovic, Peter A., Shcherbina, Anna, Alexeeva, Ekaterina, and Lee, Pui Y.

Published
2023
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7. Gout, Hyperuricaemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions of disease states of gout

Author

Bursill, David, Taylor, William J, Terkeltaub, Robert, Abhishek, Abhishek, So, Alexander K, Vargas-Santos, Ana Beatriz, Gaffo, Angelo Lino, Rosenthal, Ann, Tausche, Anne-Kathrin, Reginato, Anthony, Manger, Bernhard, Sciré, Carlo, Pineda, Carlos, van Durme, Caroline, Lin, Ching-Tsai, Yin, Congcong, Albert, Daniel Arthur, Biernat-Kaluza, Edyta, Roddy, Edward, Pascual, Eliseo, Becce, Fabio, Perez-Ruiz, Fernando, Sivera, Francisca, Lioté, Frédéric, Schett, Georg, Nuki, George, Filippou, Georgios, McCarthy, Geraldine, da Rocha Castelar Pinheiro, Geraldo, Ea, Hang-Korng, De Almeida Tupinambá, Helena, Yamanaka, Hisashi, Choi, Hyon K, Mackay, James, ODell, James R, Mellado, Janitzia Vázquez, Singh, Jasvinder A, Fitzgerald, John D, Jacobsson, Lennart TH, Joosten, Leo, Harrold, Leslie R, Stamp, Lisa, Andrés, Mariano, Gutierrez, Marwin, Kuwabara, Masanari, Dehlin, Mats, Janssen, Matthijs, Doherty, Michael, Hershfield, Michael S, Pillinger, Michael, Edwards, N Lawrence, Schlesinger, Naomi, Kumar, Nitin, Slot, Ole, Ottaviani, Sebastien, Richette, Pascal, MacMullan, Paul A, Chapman, Peter T, Lipsky, Peter E, Robinson, Philip, Khanna, Puja P, Gancheva, Rada N, Grainger, Rebecca, Johnson, Richard J, Kampe, Ritch Te, Keenan, Robert T, Tedeschi, Sara K, Kim, Seoyoung, Choi, Sung Jae, Fields, Theodore R, Bardin, Thomas, Uhlig, Till, Jansen, Tim, Merriman, Tony, Pascart, Tristan, Neogi, Tuhina, Klück, Viola, Louthrenoo, Worawit, and Dalbeth, Nicola

Subjects
Arthritis, Inflammatory and immune system, Consensus, Gout, Humans, Hyperuricemia, Terminology as Topic, gout, hyperuricemia, language, monosodium urate crystals, nomenclature, terminology, urate, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology
Abstract

ObjectiveThere is a lack of standardisation in the terminology used to describe gout. The aim of this project was to develop a consensus statement describing the recommended nomenclature for disease states of gout.MethodsA content analysis of gout-related articles from rheumatology and general internal medicine journals published over a 5-year period identified potential disease states and the labels commonly assigned to them. Based on these findings, experts in gout were invited to participate in a Delphi exercise and face-to-face consensus meeting to reach agreement on disease state labels and definitions.ResultsThe content analysis identified 13 unique disease states and a total of 63 unique labels. The Delphi exercise (n=76 respondents) and face-to-face meeting (n=35 attendees) established consensus agreement for eight disease state labels and definitions. The agreed labels were as follows: 'asymptomatic hyperuricaemia', 'asymptomatic monosodium urate crystal deposition', 'asymptomatic hyperuricaemia with monosodium urate crystal deposition', 'gout', 'tophaceous gout', 'erosive gout', 'first gout flare' and 'recurrent gout flares'. There was consensus agreement that the label 'gout' should be restricted to current or prior clinically evident disease caused by monosodium urate crystal deposition (gout flare, chronic gouty arthritis or subcutaneous tophus).ConclusionConsensus agreement has been established for the labels and definitions of eight gout disease states, including 'gout' itself. The Gout, Hyperuricaemia and Crystal-Associated Disease Network recommends the use of these labels when describing disease states of gout in research and clinical practice.

Published
2019

9. 20 Multi-Year Registry Study of Elapegademase-lvlr Treatment in Patients with Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy (ERT)

Author

Dorsey, Morna, primary, Butte, Manish, additional, Lieberman, Jay, additional, Lehman, Heather, additional, Fausnight, Tracy, additional, Keller, Michael, additional, Fradette, Caroline, additional, Hershfield, Michael, additional, Pozos, Tamara, additional, Rozova, Anna, additional, Wall, Luke, additional, Morena, M. Teresa de la, additional, Bednarski, Jeffrey, additional, Tarrant, Teresa, additional, Chong, Hey, additional, Geng, Bob, additional, Temin, Noemi Toiber, additional, Laubach, Susan, additional, Lin, Leo, additional, Mousallem, Talal, additional, and Walter, Jolan, additional

Published
2024
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11. Anti-PEG Antibodies Inhibit the Anticoagulant Activity of PEGylated Aptamers

Author

Moreno, Angelo, Pitoc, George A, Ganson, Nancy J, Layzer, Juliana M, Hershfield, Michael S, Tarantal, Alice F, and Sullenger, Bruce A

Subjects
Biochemistry and Cell Biology, Medicinal and Biomolecular Chemistry, Chemical Sciences, Biological Sciences, Biotechnology, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, Animals, Antibodies, Anticoagulants, Antigen-Antibody Reactions, Aptamers, Nucleotide, Chlorides, Disease Models, Animal, Factor IXa, Female, Ferric Compounds, Humans, Macaca mulatta, Mice, Mice, Inbred C57BL, Partial Thromboplastin Time, Polyethylene Glycols, Thrombosis, ELISA, PEG, PEGylation, RB006, REGULATE-PCI, aPTT, anti-PEG antibodies, aptamer, hypersensitivity, rhesus monkeys, Biochemistry and cell biology, Medicinal and biomolecular chemistry
Abstract

Biopharmaceuticals have become increasingly attractive therapeutic agents and are often PEGylated to enhance their pharmacokinetics and reduce their immunogenicity. However, recent human clinical trials have demonstrated that administration of PEGylated compounds can evoke anti-PEG antibodies. Considering the ubiquity of PEG in commercial products and the presence of pre-existing anti-PEG antibodies in patients in large clinical trials evaluating a PEG-modified aptamer, we investigated how anti-PEG antibodies effect the therapeutic activities of PEGylated RNA aptamers. We demonstrate that anti-PEG antibodies can directly bind to and inhibit anticoagulant aptamer function in vitro and in vivo. Moreover, in parallel studies we detected the presence of anti-PEG antibodies in nonhuman primates after a single administration of a PEGylated aptamer. Our results suggest that anti-PEG antibodies can limit the activity of PEGylated drugs and potentially compromise the activity of otherwise effective therapeutic agents.

Published
2019

12. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

Author

Kohn, Donald B, Hershfield, Michael S, Puck, Jennifer M, Aiuti, Alessandro, Blincoe, Annaliesse, Gaspar, H Bobby, Notarangelo, Luigi D, and Grunebaum, Eyal

Subjects
Animals, Humans, Agammaglobulinemia, Severe Combined Immunodeficiency, Adenosine Deaminase, Hematopoietic Stem Cell Transplantation, Consensus, Enzyme Replacement Therapy, Genetic Therapy, Adenosine deaminase deficiency, enzyme replacement therapy, gene therapy, hematopoietic stem cell transplantation, lentivirus, severe combined immune deficiency, Pediatric, Stem Cell Research, Transplantation, Clinical Research, Stem Cell Research - Nonembryonic - Human, Regenerative Medicine, Hematology, Stem Cell Research - Nonembryonic - Non-Human, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Immunology, Allergy
Abstract

Inherited defects in adenosine deaminase (ADA) cause a subtype of severe combined immunodeficiency (SCID) known as severe combined immune deficiency caused by adenosine deaminase defects (ADA-SCID). Most affected infants can receive a diagnosis while still asymptomatic by using an SCID newborn screening test, allowing early initiation of therapy. We review the evidence currently available and propose a consensus management strategy. In addition to treatment of the immune deficiency seen in patients with ADA-SCID, patients should be followed for specific noninfectious respiratory, neurological, and biochemical complications associated with ADA deficiency. All patients should initially receive enzyme replacement therapy (ERT), followed by definitive treatment with either of 2 equal first-line options. If an HLA-matched sibling donor or HLA-matched family donor is available, allogeneic hematopoietic stem cell transplantation (HSCT) should be pursued. The excellent safety and efficacy observed in more than 100 patients with ADA-SCID who received gammaretrovirus- or lentivirus-mediated autologous hematopoietic stem cell gene therapy (HSC-GT) since 2000 now positions HSC-GT as an equal alternative. If HLA-matched sibling donor/HLA-matched family donor HSCT or HSC-GT are not available or have failed, ERT can be continued or reinstituted, and HSCT with alternative donors should be considered. The outcomes of novel HSCT, ERT, and HSC-GT strategies should be evaluated prospectively in "real-life" conditions to further inform these management guidelines.

Published
2019

13. Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC

Author

Cuvelier, Geoffrey D.E., Logan, Brent R., Prockop, Susan E., Buckley, Rebecca H., Kuo, Caroline Y., Griffith, Linda M., Liu, Xuerong, Yip, Alison, Hershfield, Michael S., Ayoub, Paul G., Moore, Theodore B., Dorsey, Morna J., O'Reilly, Richard J., Kapoor, Neena, Pai, Sung-Yun, Kapadia, Malika, Ebens, Christen L., Forbes Satter, Lisa R., Burroughs, Lauri M., Petrovic, Aleksandra, Chellapandian, Deepak, Heimall, Jennifer, Shyr, David C., Rayes, Ahmad, Bednarski, Jeffrey J., Chandra, Sharat, Chandrakasan, Shanmuganathan, Gillio, Alfred P., Madden, Lisa, Quigg, Troy C., Caywood, Emi H., Dávila Saldaña, Blachy J., DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick D., Rozmus, Jacob, Shah, Ami J., Vander Lugt, Mark T., Thakar, Monica S., Parrott, Roberta E., Martinez, Caridad, Leiding, Jennifer W., Torgerson, Troy R., Pulsipher, Michael A., Notarangelo, Luigi D., Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Puck, Jennifer M., and Kohn, Donald B.

Published
2022
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15. Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency

Author

Yap, Jin Yan, Moens, Leen, Lin, Ming-Wei, Kane, Alisa, Kelleher, Anthony, Toong, Catherine, Wu, Kathy H.C., Sewell, William A., Phan, Tri Giang, Hollway, Georgina E., Enthoven, Karen, Gray, Paul E., Casas-Martin, Jose, Wouters, Carine, De Somer, Lien, Hershfield, Michael, Bucciol, Giorgia, Delafontaine, Selket, Ma, Cindy S., Tangye, Stuart G., and Meyts, Isabelle

Published
2021
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16. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

Author

Hashem, Hasan, Bucciol, Giorgia, Ozen, Seza, Unal, Sule, Bozkaya, Ikbal Ok, Akarsu, Nurten, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, Dimitrova, Dimana, Hickstein, Dennis D., Hsu, Amy P., Holland, Steven M., Krance, Robert, Sasa, Ghadir, Kumar, Ashish R., Müller, Ingo, de Sousa, Monica Abreu, Delafontaine, Selket, Moens, Leen, Babor, Florian, Barzaghi, Federica, Cicalese, Maria Pia, Bredius, Robbert, van Montfrans, Joris, Baretta, Valentina, Cesaro, Simone, Stepensky, Polina, Benedicte, Neven, Moshous, Despina, Le Guenno, Guillaume, Boutboul, David, Dalal, Jignesh, Brooks, Joel P., Dokmeci, Elif, Dara, Jasmeen, Lucas, Carrie L., Hambleton, Sophie, Wilson, Keith, Jolles, Stephen, Koc, Yener, Güngör, Tayfun, Schnider, Caroline, Candotti, Fabio, Steinmann, Sandra, Schulz, Ansgar, Chambers, Chip, Hershfield, Michael, Ombrello, Amanda, Kanakry, Jennifer A., and Meyts, Isabelle

Published
2021
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18. Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency

Author

Reinhardt, Bryanna, Habib, Omar, Shaw, Kit L., Garabedian, Elizabeth, Carbonaro-Sarracino, Denise A., Terrazas, Dayna, Fernandez, Beatriz Campo, De Oliveira, Satiro, Moore, Theodore B., Ikeda, Alan K., Engel, Barbara C., Podsakoff, Gregory M., Hollis, Roger P., Fernandes, Augustine, Jackson, Connie, Shupien, Sally, Mishra, Suparna, Davila, Alejandra, Mottahedeh, Jack, Vitomirov, Andrej, Meng, Wenzhao, Rosenfeld, Aaron M., Roche, Aoife M., Hokama, Pascha, Reddy, Shantan, Everett, John, Wang, Xiaoyan, Luning Prak, Eline T., Cornetta, Kenneth, Hershfield, Michael S., Sokolic, Robert, De Ravin, Suk See, Malech, Harry L., Bushman, Frederic D., Candotti, Fabio, and Kohn, Donald B.

Published
2021
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19. Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

Author

Hashem, Hasan, Bucciol, Giorgia, Ozen, Seza, Unal, Sule, Bozkaya, Ikbal Ok, Akarsu, Nurten, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, Dimitrova, Dimana, Hickstein, Dennis D., Hsu, Amy P., Holland, Steven M., Krance, Robert, Sasa, Ghadir, Kumar, Ashish R., Müller, Ingo, de Sousa, Monica Abreu, Delafontaine, Selket, Moens, Leen, Babor, Florian, Barzaghi, Federica, Cicalese, Maria Pia, Bredius, Robbert, van Montfrans, Joris, Baretta, Valentina, Cesaro, Simone, Stepensky, Polina, Benedicte, Neven, Moshous, Despina, Le Guenno, Guillaume, Boutboul, David, Dalal, Jignesh, Brooks, Joel P., Dokmeci, Elif, Dara, Jasmeen, Lucas, Carrie L., Hambleton, Sophie, Wilson, Keith, Jolles, Stephen, Koc, Yener, Güngör, Tayfun, Schnider, Caroline, Candotti, Fabio, Steinmann, Sandra, Schulz, Ansgar, Chambers, Chip, Hershfield, Michael, Ombrello, Amanda, Kanakry, Jennifer A., and Meyts, Isabelle

Published
2022
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22. Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.

Author

Komarow, Hirsh D, Sokolic, Robert, Hershfield, Michael S, Kohn, Donald B, Young, Michael, Metcalfe, Dean D, and Candotti, Fabio

Subjects
Lung, Humans, Lung Diseases, Agammaglobulinemia, Severe Combined Immunodeficiency, Adenosine Deaminase, Spirometry, Prospective Studies, Oscillometry, Adolescent, Child, Child, Preschool, Female, Male, Adenosine deaminase deficiency, SCID, Children, Pulmonary dysfunction, Impulse oscillometry, Preschool, Other Medical and Health Sciences, Genetics & Heredity
Abstract

Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary dysfunction likely attributable to elevated systemic adenosine levels. Lung disease assessment has primarily employed repetitive radiography and effort-dependent functional studies. Through impulse oscillometry (IOS), which is effort-independent, we prospectively obtained objective measures of lung dysfunction in 10 children with ADA-SCID. These results support the use of IOS in the identification and monitoring of lung function abnormalities in children with primary immunodeficiencies.

Published
2015

24. Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle

Author

Göschl, Lisa, Winkler, Stefan, Dmytrus, Jasmin, Heredia, Raul Jimenez, Lagler, Heimo, Ramharter, Michael, Scheinecker, Clemens, Bonelli, Michael, Schmetterer, Klaus, Pickl, Winfried F., Grabmeier-Pfistershammer, Katharina, Hershfield, Michael S., Boztug, Kaan, Förster-Waldl, Elisabeth, and Gualdoni, Guido A.

Published
2020
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26. Neurologic Status of Patients With Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation

Author

Karaaslan, Betul Gemici, primary, Turan, Isılay, additional, Aydemir, Sezin, additional, Meric, Zeynep, additional, Atay, Didem, additional, Akcay, Arzu, additional, Sari, Aysun Ayaz, additional, Hershfield, Michael, additional, Cipe, Funda, additional, Aksoy, Basak Adakli, additional, Ersoy, Gizem Zengin, additional, Bozkurt, Ceyhun, additional, Demirkol, Yasemin Kendir, additional, Ozturk, Gulyuz, additional, Aydogmus, Cigdem, additional, Kiykim, Ayca, additional, and Cokugras, Haluk, additional

Published
2023
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28. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

Author

Hashem, Hasan, Kumar, Ashish R., Müller, Ingo, Babor, Florian, Bredius, Robbert, Dalal, Jignesh, Hsu, Amy P., Holland, Steven M., Hickstein, Dennis D., Jolles, Stephen, Krance, Robert, Sasa, Ghadir, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, van Montfrans, Joris, Wilson, Keith, Bosch, Barbara, Moens, Leen, Hershfield, Michael, and Meyts, Isabelle

Published
2017
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29. Recommendations from the ClinGen SCID VCEP: Implementation of ACMG/AMP Variant Curation Guidelines for Severe Combined Immunodeficiency Disease

Author

Jacovas, Vanessa, primary, Zelnick, Michelle, additional, Cowan, Morton, additional, Ghosh, Rajarshi, additional, Hershfield, Michael, additional, Puck, Jennifer, additional, Verbsky, James, additional, Walter, Jolan, additional, Yuan, Bo, additional, Martin, Shiloh, additional, Pan, Xueyang, additional, McNulty, Shannon, additional, Johnson, Britt, additional, and Chinn, Ivan, additional

Published
2023
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31. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement

Author

Lee, Pui Y, Davidson, Brad A, Abraham, Roshini S, Alter, Blanche, Arostegui, Juan I, Bell, Katherine, Belot, Alexandre, Bergerson, Jenna RE, Bernard, Timothy J, Brogan, Paul A, Berkun, Yackov, Deuitch, Natalie T, Dimitrova, Dimana, Georgin-Lavialle, Sophie A, Gattorno, Marco, Grimbacher, Bodo, Hashem, Hasan, Hershfield, Michael S, Ichord, Rebecca N, Izawa, Kazushi, Kanakry, Jennifer A, Khubchandani, Raju P, Klouwer, Femke CC, Luton, Evan A, Man, Ada W, Meyts, Isabelle, Van Montfrans, Joris M, Ozen, Seza, Saarela, Janna, Santo, Gustavo C, Sharma, Aman, Soldatos, Ariane, Sparks, Rachel, Torgerson, Troy R, Uriarte, Ignacio Leandro, Youngstein, Taryn AB, Zhou, Qing, Aksentijevich, Ivona, Kastner, Daniel L, Chambers, Eugene P, Ombrello, Amanda K, and DADA2 Foundation

Subjects
Heterozygote, Phenotype, Adenosine Deaminase, Intercellular Signaling Peptides and Proteins
Abstract

IMPORTANCE: Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency affecting both children and adults. DADA2 is among the more common monogenic autoinflammatory diseases, with an estimate of more than 35 000 cases worldwide, but currently, there are no guidelines for diagnostic evaluation or management. OBJECTIVE: To review the available evidence and develop multidisciplinary consensus statements for the evaluation and management of DADA2. EVIDENCE REVIEW: The DADA2 Consensus Committee developed research questions based on data collected from the International Meetings on DADA2 organized by the DADA2 Foundation in 2016, 2018, and 2020. A comprehensive literature review was performed for articles published prior to 2022. Thirty-two consensus statements were generated using a modified Delphi process, and evidence was graded using the Oxford Center for Evidence-Based Medicine Levels of Evidence. FINDINGS: The DADA2 Consensus Committee, comprising 3 patient representatives and 35 international experts from 18 countries, developed consensus statements for (1) diagnostic testing, (2) screening, (3) clinical and laboratory evaluation, and (4) management of DADA2 based on disease phenotype. Additional consensus statements related to the evaluation and treatment of individuals with DADA2 who are presymptomatic and carriers were generated. Areas with insufficient evidence were identified, and questions for future research were outlined. CONCLUSIONS AND RELEVANCE: DADA2 is a potentially fatal disease that requires early diagnosis and treatment. By summarizing key evidence and expert opinions, these consensus statements provide a framework to facilitate diagnostic evaluation and management of DADA2. ispartof: JAMA Netw Open vol:6 issue:5 pages:e2315894- ispartof: location:United States status: Published online

Published
2023

33. Event Free Survival in Severe Combined Immune Deficiency (SCID) Infants after Conditioned Umbilical Cord Blood Transplantation (UCBT) Benefits from Omitting Serotherapy

Author

Martinez, Caridad, primary, Logan, Brent, additional, Liu, Xuerong, additional, Dvorak, Christopher C., additional, Madden, Lisa, additional, Molinari, Lyndsay, additional, Cowan, Morton J., additional, Pai, Sung-Yun, additional, Haddad, Elie, additional, Puck, Jennifer, additional, Kohn, Donald B., additional, Griffith, Linda M., additional, Pulsipher, Michael, additional, Leiding, Jennifer W., additional, Notarangelo, Luigi D., additional, Torgerson, Troy, additional, Marsh, Rebecca A., additional, Cuvelier, Geoff D.E., additional, Prockop, Susan, additional, Buckley, Rebecca H., additional, Kuo, Caroline Y., additional, Yip, Alison, additional, Hershfield, Michael S., additional, Parrott, Roberta E, additional, Ebens, Christen L., additional, Moore, Theodore B., additional, O’Reilly, Richard J., additional, Kapadia, Malika, additional, Kapoor, Neena, additional, Satter, Lisa Forbes, additional, Burroughs, Lauri M., additional, Petrovic, Aleksandra, additional, Thakar, Monica S., additional, Chellapandian, Deepak, additional, Heimall, Jennifer R., additional, Shyr, David C., additional, Bednarski, Jeffrey J, additional, Rayes, Ahmad, additional, Chandrakasan, Shanmuganathan, additional, Quigg, Troy C., additional, Davila, Blachy J, additional, DeSantes, Kenneth, additional, Eissa, Hesham, additional, Goldman, Frederick, additional, Rozmus, Jacob, additional, Shah, Ami J, additional, Lugt, Mark Vander, additional, Keller, Michael D., additional, Sullivan, Kathleen E., additional, Jyonouchi, Soma, additional, Seroogy, Christine, additional, Decaluwe, Helene, additional, Teira, Pierre, additional, Knutsen, Alan P., additional, Kletzel, Morris, additional, Aquino, Victor, additional, Davis, Jeffrey H, additional, and Szabolcs, Paul, additional

Published
2023
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35. 116 - Event Free Survival in Severe Combined Immune Deficiency (SCID) Infants after Conditioned Umbilical Cord Blood Transplantation (UCBT) Benefits from Omitting Serotherapy

Author

Martinez, Caridad, Logan, Brent, Liu, Xuerong, Dvorak, Christopher C., Madden, Lisa, Molinari, Lyndsay, Cowan, Morton J., Pai, Sung-Yun, Haddad, Elie, Puck, Jennifer, Kohn, Donald B., Griffith, Linda M., Pulsipher, Michael, Leiding, Jennifer W., Notarangelo, Luigi D., Torgerson, Troy, Marsh, Rebecca A., Cuvelier, Geoff D.E., Prockop, Susan, Buckley, Rebecca H., Kuo, Caroline Y., Yip, Alison, Hershfield, Michael S., Parrott, Roberta E, Ebens, Christen L., Moore, Theodore B., O’Reilly, Richard J., Kapadia, Malika, Kapoor, Neena, Satter, Lisa Forbes, Burroughs, Lauri M., Petrovic, Aleksandra, Thakar, Monica S., Chellapandian, Deepak, Heimall, Jennifer R., Shyr, David C., Bednarski, Jeffrey J, Rayes, Ahmad, Chandrakasan, Shanmuganathan, Quigg, Troy C., Davila, Blachy J, DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick, Rozmus, Jacob, Shah, Ami J, Lugt, Mark Vander, Keller, Michael D., Sullivan, Kathleen E., Jyonouchi, Soma, Seroogy, Christine, Decaluwe, Helene, Teira, Pierre, Knutsen, Alan P., Kletzel, Morris, Aquino, Victor, Davis, Jeffrey H, and Szabolcs, Paul

Published
2023
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36. Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency

Author

Barzaghi, Federica, primary, Cicalese, Maria Pia, additional, Zoccolillo, Matteo, additional, Brigida, Immacolata, additional, Barcella, Matteo, additional, Merelli, Ivan, additional, Sartirana, Claudia, additional, Zanussi, Monica, additional, Calbi, Valeria, additional, Bernardo, Maria Ester, additional, Tucci, Francesca, additional, Migliavacca, Maddalena, additional, Giglio, Fabio, additional, Doglio, Matteo, additional, Canarutto, Daniele, additional, Ferrua, Francesca, additional, Consiglieri, Giulia, additional, Prunotto, Giulia, additional, Saettini, Francesco, additional, Bonanomi, Sonia, additional, Rovere-Querini, Patrizia, additional, Di Colo, Giulia, additional, Jofra, Tatiana, additional, Fousteri, Georgia, additional, Penco, Federica, additional, Gattorno, Marco, additional, Hershfield, Michael S., additional, Bongiovanni, Lucia, additional, Ponzoni, Maurilio, additional, Marktel, Sarah, additional, Milani, Raffaella, additional, Peccatori, Jacopo, additional, Ciceri, Fabio, additional, Mortellaro, Alessandra, additional, and Aiuti, Alessandro, additional

Published
2022
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38. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

Author

la Marca, Giancarlo, Canessa, Clementina, Giocaliere, Elisa, Romano, Francesca, Malvagia, Sabrina, Funghini, Silvia, Moriondo, Maria, Valleriani, Claudia, Lippi, Francesca, Ombrone, Daniela, Della Bona, Maria Luisa, Speckmann, Carsten, Borte, Stephan, Brodszki, Nicholas, Gennery, Andrew R., Weinacht, Katja, Celmeli, Fatih, Pagel, Julia, de Martino, Maurizio, Guerrini, Renzo, Wittkowski, Helmut, Santisteban, Ines, Bali, Pawan, Ikinciogullari, Aydan, Hershfield, Michael, Notarangelo, Luigi D., Resti, Massimo, and Azzari, Chiara

Published
2014
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45. Gene therapy for adenosine deaminase–deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans

Author

Candotti, Fabio, Shaw, Kit L., Muul, Linda, Carbonaro, Denise, Sokolic, Robert, Choi, Christopher, Schurman, Shepherd H., Garabedian, Elizabeth, Kesserwan, Chimene, Jagadeesh, G. Jayashree, Fu, Pei-Yu, Gschweng, Eric, Cooper, Aaron, Tisdale, John F., Weinberg, Kenneth I., Crooks, Gay M., Kapoor, Neena, Shah, Ami, Abdel-Azim, Hisham, Yu, Xiao-Jin, Smogorzewska, Monika, Wayne, Alan S., Rosenblatt, Howard M., Davis, Carla M., Hanson, Celine, Rishi, Radha G., Wang, Xiaoyan, Gjertson, David, Yang, Otto O., Balamurugan, Arumugam, Bauer, Gerhard, Ireland, Joanna A., Engel, Barbara C., Podsakoff, Gregory M., Hershfield, Michael S., Blaese, R. Michael, Parkman, Robertson, and Kohn, Donald B.

Published
2012
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46. Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning

Author

Otsu, Makoto, Yamada, Masafumi, Nakajima, Satoru, Kida, Miyuki, Maeyama, Yoshihiro, Hatano, Norikazu, Toita, Nariaki, Takezaki, Shunichiro, Okura, Yuka, Kobayashi, Ryoji, Matsumoto, Yoshinori, Tatsuzawa, Osamu, Tsuchida, Fumiko, Kato, Shunichi, Kitagawa, Masanari, Mineno, Junichi, Hershfield, Michael S., Bali, Pawan, Candotti, Fabio, Onodera, Masafumi, Kawamura, Nobuaki, Sakiyama, Yukio, and Ariga, Tadashi

Published
2015
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47. Outcomes after Hematopoietic Cell Transplant and Gene Therapy for Adenosine Deaminase (ADA) Severe Combined Immune Deficiency: A Combined Analysis from the Primary Immune Deficiency Treatment Consortium (PIDTC) 6901 and 6902 Studies

Author

Cuvelier, Geoff D.E., primary, Logan, Brent, additional, Prockop, Susan E., additional, Buckley, Rebecca H., additional, Kuo, Caroline Y., additional, Griffith, Linda M., additional, Liu, Xuerong, additional, Yip, Alison, additional, Hershfield, Michael S., additional, Parrott, Roberta E, additional, Ebens, Christen L., additional, Moore, Theodore B., additional, O’Reilly, Richard J., additional, Pai, Sung-Yun, additional, Kapadia, Malika, additional, Kapoor, Neena, additional, Forbes Satter, Lisa R., additional, Martinez, Caridad, additional, Burroughs, Lauri M., additional, Petrovic, Aleksandra, additional, Thakar, Monica S., additional, Chellapandian, Deepak, additional, Heimall, Jennifer, additional, Shyr, David C., additional, Rayes, Ahmad, additional, Bednarski II, Jeffrey J., additional, Chandra, Sharat, additional, Chandrakasan, Shanmuganathan, additional, Gillio, Alfred P., additional, Madden, Lisa, additional, Quigg, Troy C., additional, Caywood, Emi H., additional, Dávila Saldaña, Blachy J, additional, DeSantes, Kenneth, additional, Eissa, Hesham, additional, Goldman, Frederick, additional, Rozmus, Jacob, additional, Shah, Ami J, additional, Vander Lugt, Mark T., additional, Pulsipher, Mike A., additional, Notarangelo, Luigi D., additional, Cowan, Morton J., additional, Dvorak, Christopher C., additional, Haddad, Elie, additional, Puck, Jennifer, additional, and Kohn, Donald B., additional

Published
2022
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48. Polyethylene Glycol‐Like Brush Polymer Conjugate of a Protein Drug Does Not Induce an Antipolymer Immune Response and Has Enhanced Pharmacokinetics than Its Polyethylene Glycol Counterpart

Author

Ozer, Imran, primary, Kelly, Garrett, additional, Gu, Renpeng, additional, Li, Xinghai, additional, Zakharov, Nikita, additional, Sirohi, Parul, additional, Nair, Smita K., additional, Collier, Joel H., additional, Hershfield, Michael S., additional, Hucknall, Angus M., additional, and Chilkoti, Ashutosh, additional

Published
2022
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49. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach

Author

Jee, Hyuk, primary, Huang, Zhengping, additional, Baxter, Samantha, additional, Huang, Yuelong, additional, Taylor, Maria L., additional, Henderson, Lauren A., additional, Rosenzweig, Sofia, additional, Sharma, Aman, additional, Chambers, Eugene P., additional, Hershfield, Michael S., additional, Zhou, Qing, additional, Dedeoglu, Fatma, additional, Aksentijevich, Ivona, additional, Nigrovic, Peter A., additional, O’Donnell-Luria, Anne, additional, and Lee, Pui Y., additional

Published
2022
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