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1. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

Author

Chandrasekaran, Prabha, Han, Yu, Zerbe, Christa, Heller, Theo, DeRavin, Suk, Kreuzberg, Samantha, Marciano, Beatriz, Siu, Yik, Jones, Drew, Abraham, Roshini, Stephens, Michael, Tsou, Amy, Snapper, Scott, Conlan, Sean, Subramanian, Poorani, Quinones, Mariam, Grou, Caroline, Calderon, Virginie, Deming, Clayton, Leiding, Jennifer, Arnold, Danielle, Logan, Brent, Griffith, Linda, Petrovic, Aleksandra, Mousallem, Talal, Kapoor, Neena, Heimall, Jennifer, Barnum, Jessie, Kapadia, Malika, Wright, Nicola, Rayes, Ahmad, Chandra, Sharat, Broglie, Larisa, Chellapandian, Deepak, Deal, Christin, Grunebaum, Eyal, Lim, Stephanie, Mallhi, Kanwaldeep, Marsh, Rebecca, Murguia-Favela, Luis, Parikh, Suhag, Touzot, Fabien, Cowan, Morton, Dvorak, Christopher, Haddad, Elie, Kohn, Donald, Notarangelo, Luigi, Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael, Torgerson, Troy, Kang, Elizabeth, Malech, Harry, Segre, Julia, Bryant, Clare, Holland, Steven, and Falcone, Emilia

Subjects
CGD, Chronic granulomatous disease, IBD, NADPH oxidase, dysbiosis, inborn errors of immunity, inflammatory bowel disease, intestinal inflammation, metabolome, microbiome, primary immune deficiency, Humans, Granulomatous Disease, Chronic, Gastrointestinal Microbiome, NADPH Oxidases, Cross-Sectional Studies, Inflammatory Bowel Diseases
Abstract

BACKGROUND: Chronic granulomatous disease (CGD) is caused by defects in any 1 of the 6 subunits forming the nicotinamide adenine dinucleotide phosphate oxidase complex 2 (NOX2), leading to severely reduced or absent phagocyte-derived reactive oxygen species production. Almost 50% of patients with CGD have inflammatory bowel disease (CGD-IBD). While conventional IBD therapies can treat CGD-IBD, their benefits must be weighed against the risk of infection. Understanding the impact of NOX2 defects on the intestinal microbiota may lead to the identification of novel CGD-IBD treatments. OBJECTIVE: We sought to identify microbiome and metabolome signatures that can distinguish individuals with CGD and CGD-IBD. METHODS: We conducted a cross-sectional observational study of 79 patients with CGD, 8 pathogenic variant carriers, and 19 healthy controls followed at the National Institutes of Health Clinical Center. We profiled the intestinal microbiome (amplicon sequencing) and stool metabolome, and validated our findings in a second cohort of 36 patients with CGD recruited through the Primary Immune Deficiency Treatment Consortium. RESULTS: We identified distinct intestinal microbiome and metabolome profiles in patients with CGD compared to healthy individuals. We observed enrichment for Erysipelatoclostridium spp, Sellimonas spp, and Lachnoclostridium spp in CGD stool samples. Despite differences in bacterial alpha and beta diversity between the 2 cohorts, several taxa correlated significantly between both cohorts. We further demonstrated that patients with CGD-IBD have a distinct microbiome and metabolome profile compared to patients without CGD-IBD. CONCLUSION: Intestinal microbiome and metabolome signatures distinguished patients with CGD and CGD-IBD, and identified potential biomarkers and therapeutic targets.

Published
2023

3. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report

Author

McDonnell, John, Cousins, Kimberley, Younger, M. Elizabeth M., Lane, Adam, Abolhassani, Hassan, Abraham, Roshini S., Al-Tamemi, Salem, Aldave-Becerra, Juan Carlos, Al-Faris, Eman Hesham, Alfaro-Murillo, Alberto, AlKhater, Suzan A., Alsaati, Nouf, Doss, Alexa Michelle Altman, Anderson, Melissa, Angarola, Ernestina, Ariue, Barbara, Arnold, Danielle E., Assa’ad, Amal H., Aytekin, Caner, Bank, Meaghan, Bergerson, Jenna R. E., Bleesing, Jack, Boesing, John, Bouso, Carolina, Brodszki, Nicholas, Cabanillas, Diana, Cady, Carol, Callahan, Meghan A., Caorsi, Roberta, Carbone, Javier, Carrabba, Maria, Castagnoli, Riccardo, Catanzaro, Jason R., Chan, Samantha, Chandra, Sharat, Chapdelaine, Hugo, Chavoshzadeh, Zahra, Chong, Hey Jin, Connors, Lori, Consonni, Filippo, Correa-Jimenez, Oscar, Cunningham-Rundles, Charlotte, D’Astous-Gauthier, Katherine, Delmonte, Ottavia Maria, Demirdag, Yesim Yilmaz, Deshpande, Deepti R., Diaz-Cabrera, Natalie M., Dimitriades, Victoria R., El-Owaidy, Rasha, ElGhazali, Gehad, Al-Hammadi, Suleiman, Fabio, Giovanna, Faure, Astrid Schellnast, Feng, Jin, Fernandez, James M., Fill, Lauren, Franco, Guacira R., Frenck, Robert W., Fuleihan, Ramsay L., Giardino, Giuliana, Galant-Swafford, Jessica, Gambineri, Eleonora, Garabedian, Elizabeth K., Geerlinks, Ashley V., Goudouris, Ekaterini, Grecco, Octavio, Pan-Hammarström, Qiang, Khani, Hedieh Haji Khodaverdi, Hammarström, Lennart, Hartog, Nicholas L., Heimall, Jennifer, Hernandez-Molina, Gabriela, Horner, Caroline C., Hostoffer, Robert W., Hristova, Nataliya, Hsiao, Kuang-Chih, Ivankovich-Escoto, Gabriela, Jaber, Faris, Jalil, Maaz, Jamee, Mahnaz, Jean, Tiffany, Jeong, Stephanie, Jhaveri, Devi, Jordan, Michael B., Joshi, Avni Y., Kalkat, Amanpreet, Kanarek, Henry J., Kellner, Erinn S., Khojah, Amer, Khoury, Ruby, Kokron, Cristina M., Kumar, Ashish, Lecerf, Kelsey, Lehman, Heather K., Leiding, Jennifer W., Lesmana, Harry, Lim, Xin Rong, Lopes, Joao Pedro, López, Ana Laura, Tarquini, Lucia, Lundgren, Ingrid S., Magnusson, Julieann, Marinho, Ana Karolina B. B., Marseglia, Gian Luigi, Martone, Giulia M., Mechtler, Annamaria G., Mendonca, Leonardo, Milner, Joshua D., Mustillo, Peter J., Naderi, Asal Gharib, Naviglio, Samuele, Nell, Jeremy, Niebur, Hana B., Notarangelo, Luigi, Oleastro, Matias, Ortega-López, María Claudia, Patel, Neil R., Petrovic, Gordana, Pignata, Claudio, Porras, Oscar, Prince, Benjamin T., Puck, Jennifer M., Qamar, Nashmia, Rabusin, Marco, Raje, Nikita, Regairaz, Lorena, Risma, Kimberly A., Ristagno, Elizabeth H., Routes, John, Roxo-Junior, Persio, Salemi, Negin, Scalchunes, Christopher, Schuval, Susan J., Seneviratne, Suranjith L., Shankar, Ashwin, Sherkat, Roya, Shin, Junghee Jenny, Siddiqi, Abeer, Signa, Sara, Sobh, Ali, Lima, Fabiana Mascarenhas Souza, Stenehjem, Kristen K., Tam, Jonathan S., Tang, Monica, Barros, Myrthes Toledo, Verbsky, James, Vergadi, Eleni, Voelker, Dayne H., Volpi, Stefano, Wall, Luke A., Wang, Christine, Williams, Kelli W., Wu, Eveline Y., Wu, Shan Shan, Zhou, Jessie J., Cook, Alexandria, Sullivan, Kathleen E., and Marsh, Rebecca

Published
2024
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5. Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy

Author

Arnold, Danielle E, Chellapandian, Deepak, Parikh, Suhag, Mallhi, Kanwaldeep, Marsh, Rebecca A, Heimall, Jennifer R, Grossman, Debra, Chitty-Lopez, Maria, Murguia-Favela, Luis, Gennery, Andrew R, Boulad, Farid, Arbuckle, Erin, Cowan, Morton J, Dvorak, Christopher C, Griffith, Linda M, Haddad, Elie, Kohn, Donald B, Notarangelo, Luigi D, Pai, Sung-Yun, Puck, Jennifer M, Pulsipher, Michael A, Torgerson, Troy, Kang, Elizabeth M, Malech, Harry L, and Leiding, Jennifer W

Subjects
Biomedical and Clinical Sciences, Immunology, Transplantation, Clinical Research, Hematology, Inflammatory and immune system, Genetic Therapy, Graft vs Host Disease, Granulocytes, Granulomatous Disease, Chronic, Hematopoietic Stem Cell Transplantation, Humans, Retrospective Studies, Transplantation Conditioning, Granulocyte transfusions, Chronic granulomatous disease, Alloimmunization, Hematopoietic cell transplantation, Graft failure
Abstract

Granulocyte transfusions are sometimes used as adjunctive therapy for the treatment of infection in patients with chronic granulomatous disease (CGD). However, granulocyte transfusions can be associated with a high rate of alloimmunization, and their role in CGD patients undergoing hematopoietic cell transplantation (HCT) or gene therapy (GT) is unknown. We identified 27 patients with CGD who received granulocyte transfusions pre- (within 6 months) and/or post-HCT or GT in a retrospective survey. Twelve patients received granulocyte transfusions as a bridge to cellular therapy. Six (50%) of these patients had a complete or partial response. However, six of 10 (60%) patients for whom testing was performed developed anti-HLA antibodies, and three of the patients also had severe immune-mediated cytopenia within the first 100 days post-HCT or GT. Fifteen patients received granulocyte transfusions post-HCT only. HLA antibodies were not checked for any of these 15 patients, but there were no cases of early immune-mediated cytopenia. Out of 25 patients who underwent HCT, there were 5 (20%) cases of primary graft failure. Three of the patients with primary graft failure had received granulocyte transfusions pre-HCT and were subsequently found to have anti-HLA antibodies. In this small cohort of patients with CGD, granulocyte transfusions pre-HCT or GT were associated with high rates of alloimmunization, primary graft failure, and early severe immune-mediated cytopenia post-HCT or GT. Granulocyte transfusions post-HCT do not appear to confer an increased risk of graft failure.

Published
2022

6. Part 5: Allogeneic HSCT in refractory SJIA with lung disease; recent cases from centers in North America & Europe

Author

Grom, Alexei A., Canna, Scott W., Abu-Arja, Rolla F., Sinha, Rashmi, Peixoto, Luciana, Cannizzaro, Elvira, Chandrakasan, Shanmuganathan, Driest, Kyla, Marsh, Rebecca, Neven, Bénédicte, Onel, Karen, Prahalad, Sampath, Prockop, Susan, Quartier, Pierre, Roth, Johannes, Schulert, Grant, Silva, Juliana M.F., Wall, Donna, and Zeilhofer, Ulrike

Published
2023
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7. Comparison of hematopoietic cell transplant conditioning regimens for hemophagocytic lymphohistiocytosis disorders

Author

Marsh, Rebecca A, Hebert, Kyle, Kim, Soyoung, Dvorak, Christopher C, Aquino, Victor M, Baker, K Scott, Chellapandian, Deepak, Dávila Saldaña, Blachy, Duncan, Christine N, Eckrich, Michael J, Georges, George E, Olson, Timothy S, Pulsipher, Michael A, Shenoy, Shalini, Stenger, Elizabeth, Lugt, Mark Vander, Yu, Lolie C, Gennery, Andrew R, and Eapen, Mary

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Transplantation, Infectious Diseases, Hematology, Prevention, Good Health and Well Being, Busulfan, Cyclophosphamide, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Lymphohistiocytosis, Hemophagocytic, Melphalan, Thiotepa, Transplantation Conditioning, Vidarabine, Hemophagocytic lymphohistiocytosis, HLH, allogeneic hematopoietic cell transplantation, HCT, hematopoietic stem cell transplantation, HSCT, bone marrow transplantation, BMT, Immunology, Allergy
Abstract

BackgroundAllogeneic hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis (HLH) disorders is associated with substantial morbidity and mortality.ObjectiveThe effect of conditioning regimen groups of varying intensity on outcomes after transplantation was examined to identify an optimal regimen or regimens for HLH disorders.MethodsWe studied 261 patients with HLH disorders transplanted between 2005 and 2018. Risk factors for transplantation outcomes by conditioning regimen groups were studied by Cox regression models.ResultsFour regimen groups were studied: (1) fludarabine (Flu) and melphalan (Mel) in 123 subjects; (2) Flu, Mel, and thiotepa (TT) in 28 subjects; (3) Flu and busulfan (Bu) in 14 subjects; and (4) Bu and cyclophosphamide (Cy) in 96 subjects. The day 100 incidence of veno-occlusive disease was lower with Flu/Mel (4%) and Flu/Mel/TT (0%) compared to Flu/Bu (14%) and Bu/Cy (22%) (P < .001). The 6-month incidence of viral infections was highest after Flu/Mel (72%) and Flu/Mel/TT (64%) compared to Flu/Bu (39%) and Bu/Cy (38%) (P < .001). Five-year event-free survival (alive and engrafted without additional cell product administration) was lower with Flu/Mel (44%) compared to Flu/Mel/TT (70%), Flu/Bu (79%), and Bu/Cy (61%) (P = .002). The corresponding 5-year overall survival values were 68%, 75%, 86%, and 64%, and did not differ by conditioning regimen (P = .19). Low event-free survival with Flu/Mel is attributed to high graft failure (42%) compared to Flu/Mel/TT (15%), Flu/Bu (7%), and Bu/Cy (18%) (P < .001).ConclusionsGiven the high rate of graft failure with Flu/Mel and the high rate of veno-occlusive disease with Bu/Cy and Flu/Bu, Flu/Mel/TT may be preferred for HLH disorders. Prospective studies are warranted.

Published
2022

8. Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study

Author

Grunebaum, Eyal, Arnold, Danielle E., Logan, Brent, Parikh, Suhag, Marsh, Rebecca A., Griffith, Linda M., Mallhi, Kanwaldeep, Chellapandian, Deepak, Lim, Stephanie Si, Deal, Christin L., Kapoor, Neena, Murguía-Favela, Luis, Falcone, Emilia Liana, Prasad, Vinod K., Touzot, Fabien, Bleesing, Jack J., Chandrakasan, Shanmuganathan, Heimall, Jennifer R., Bednarski, Jeffrey J., Broglie, Larisa A., Chong, Hey Jin, Kapadia, Malika, Prockop, Susan, Dávila Saldaña, Blachy J., Schaefer, Edo, Bauchat, Andrea L., Teira, Pierre, Chandra, Sharat, Parta, Mark, Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer M., Pulsipher, Michael A., Torgerson, Troy R., Malech, Harry L., Kang, Elizabeth M., and Leiding, Jennifer W.

Published
2024
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9. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia

Author

Abraham, Roshini S., Basu, Amrita, Heimall, Jennifer R., Dunn, Elizabeth, Yip, Alison, Kapadia, Malika, Kapoor, Neena, Satter, Lisa Forbes, Buckley, Rebecca, O'Reilly, Richard, Cuvelier, Geoffrey D.E., Chandra, Sharat, Bednarski, Jeffrey, Chaudhury, Sonali, Moore, Theodore B., Haines, Hilary, Dávila Saldaña, Blachy J., Chellapandian, Deepakbabu, Rayes, Ahmad, Chen, Karin, Caywood, Emi, Chandrakasan, Shanmuganathan, Lugt, Mark Thomas Vander, Ebens, Christen, Teira, Pierre, Shereck, Evan, Miller, Holly, Aquino, Victor, Eissa, Hesham, Yu, Lolie C., Gillio, Alfred, Madden, Lisa, Knutsen, Alan, Shah, Ami J., DeSantes, Kenneth, Barnum, Jessie, Broglie, Larisa, Joshi, Avni Y., Kleiner, Gary, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad, Mousallem, Talal, Oved, Joseph, Burroughs, Lauri, Marsh, Rebecca, Torgerson, Troy R., Leiding, Jennifer W., Pai, Sung Yun, Kohn, Donald B., Pulsipher, Michael A., Griffith, Linda M., Notarangelo, Luigi D., Cowan, Morton J., Puck, Jennifer, Dvorak, Christopher C., and Haddad, Elie

Published
2024
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10. Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation

Author

Böhm, Svea, Wustrau, Katharina, Pachlopnik Schmid, Jana, Prader, Seraina, Ahlmann, Martina, Yacobovich, Joanne, Beier, Rita, Speckmann, Carsten, Behnisch, Wolfgang, Ifversen, Marianne, Jordan, Michael, Marsh, Rebecca, Naumann-Bartsch, Nora, Mauz-Körholz, Christine, Hönig, Manfred, Schulz, Ansgar, Malinowska, Iwona, Hines, Melissa, Nichols, Kim E., Gil-Herrera, Juana, Talano, Julie-An, Crooks, Bruce, Formankova, Renata, Jorch, Norbert, Bakhtiar, Shahrzad, Kühnle, Ingrid, Streiter, Monika, Nathrath, Michaela, Russo, Alexandra, Dürken, Matthias, Lang, Peter, Lindemans, Caroline, Henter, Jan-Inge, Lehmberg, Kai, and Ehl, Stephan

Published
2024
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11. Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry

Author

Smith, Kelsey L, Dai, Darlene, Modi, Bhavi P, Sara, Rahnuma, Garabedian, Elizabeth, Marsh, Rebecca A, Puck, Jennifer, Secord, Elizabeth, Sullivan, Kathleen E, Turvey, Stuart E, and Biggs, Catherine M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Eosinophilia, Humans, Immunoglobulin E, Inflammation, Registries, Retrospective Studies, atopy, primary immunodeficiency, IgE, eosinophilia, inborn error of immunity, USIDNET Consortium, Immunology, Medical Microbiology, Biochemistry and cell biology
Abstract

BackgroundMonogenic conditions that disrupt proper development and/or function of the immune system are termed inborn errors of immunity (IEIs), also known as primary immunodeficiencies. Patients with IEIs often suffer from other manifestations in addition to infection, and allergic inflammation is an increasingly recognized feature of these conditions.MethodsWe performed a retrospective analysis of IEIs presenting with allergic inflammation as reported in the USIDNET registry. Our inclusion criteria comprised of patients with a reported monogenic cause for IEI where reported lab eosinophil and/or IgE values were available for the patient prior to them receiving potentially curative therapy. Patients were excluded if we were unable to determine the defective gene underlying their IEI. Patients were classified as having eosinophilia or elevated IgE when their record included at least 1 eosinophil count or IgE value that was greater than the age stratified upper limit of normal. We compared the proportion of patients with eosinophilia or elevated IgE with the proportion of samples in a reference population that fall above the upper limit of normal (2.5%).ResultsThe query submitted to the USIDNET registry identified 1409 patients meeting inclusion criteria with a monogenic cause for their IEI diagnosis, of which 975 had eosinophil counts and 645 had IgE levels obtained prior to transplantation or gene therapy that were available for analysis. Overall, 18.8% (183/975) of the patients evaluated from the USIDNET registry had eosinophilia and 20.9% (135/645) had an elevated IgE. IEIs caused by defects in 32 genes were found to be significantly associated with eosinophilia and/or an elevated IgE level, spanning 7 of the 10 IEI categories according to the International Union of Immunological Societies classification.ConclusionType 2 inflammation manifesting as eosinophilia or elevated IgE is found in a broad range of IEIs in the USIDNET registry. Our findings suggest that allergic immune dysregulation may be more widespread in IEIs than previously reported.

Published
2022

12. Systemic T-cell activation and IFN-γ activity in indeterminate severe hepatitis are reminiscent of hemophagocytic lymphohistiocytosis: Implications for T-cell– and IFN-γ–directed therapies

Author

Nguyen, Thinh H., Satwani, Prakash, Kumar, Deepak, Kapoor, Urvi, Malik, Sakshi, Prince, Chengyu, Montminy, Taylor, Smiley, Kristi, Martinez, Mercedes, Goldner, Dana, Marsh, Rebecca, Remotti, Helen E., Fazlollahi, Ladan, Rytting, Heather B., Romero, Rene, and Chandrakasan, Shanmuganathan

Published
2024
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14. Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study

Author

Eissa, Hesham, Thakar, Monica S., Shah, Ami J., Logan, Brent R., Griffith, Linda M., Dong, Huaying, Parrott, Roberta E., O’Reilly, Richard J., Dara, Jasmeen, Kapoor, Neena, Forbes Satter, Lisa, Chandra, Sharat, Kapadia, Malika, Chandrakasan, Shanmuganathan, Knutsen, Alan, Jyonouchi, Soma C., Molinari, Lyndsay, Rayes, Ahmad, Ebens, Christen L., Teira, Pierre, Dávila Saldaña, Blachy J., Burroughs, Lauri M., Chaudhury, Sonali, Chellapandian, Deepak, Gillio, Alfred P., Goldman, Fredrick, Malech, Harry L., DeSantes, Kenneth, Cuvelier, Geoff D.E., Rozmus, Jacob, Quinones, Ralph, Yu, Lolie C., Broglie, Larisa, Aquino, Victor, Shereck, Evan, Moore, Theodore B., Vander Lugt, Mark T., Mousallem, Talal I., Oved, Joeseph H., Dorsey, Morna, Abdel-Azim, Hisham, Martinez, Caridad, Bleesing, Jacob H., Prockop, Susan, Kohn, Donald B., Bednarski, Jeffrey J., Leiding, Jennifer, Marsh, Rebecca A., Torgerson, Troy, Notarangelo, Luigi D., Pai, Sung-Yun, Pulsipher, Michael A., Puck, Jennifer M., Dvorak, Christopher C., Haddad, Elie, Buckley, Rebecca H., Cowan, Morton J., and Heimall, Jennifer

Published
2024
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15. Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD

Author

Leiding, Jennifer W., Arnold, Danielle E., Parikh, Suhag, Logan, Brent, Marsh, Rebecca A., Griffith, Linda M., Wu, Ruizhe, Kidd, Sharon, Mallhi, Kanwaldeep, Chellapandian, Deepak, Si Lim, Stephanie J., Grunebaum, Eyal, Falcone, E. Liana, Murguia-Favela, Luis, Grossman, Debbi, Prasad, Vinod K., Heimall, Jennifer R., Touzot, Fabien, Burroughs, Lauri M., Bleesing, Jack, Kapoor, Neena, Dara, Jasmeen, Williams, Olatundun, Kapadia, Malika, Oshrine, Benjamin R., Bednarski, Jeffrey J., Rayes, Ahmad, Chong, Hey, Cuvelier, Geoffrey D. E., Forbes Satter, Lisa R., Martinez, Caridad, Vander Lugt, Mark T., Yu, Lolie C., Chandrakasan, Shanmuganathan, Joshi, Avni, Prockop, Susan E., Dávila Saldaña, Blachy J., Aquino, Victor, Broglie, Larisa A., Ebens, Christen L., Madden, Lisa M., DeSantes, Kenneth, Milner, Jordan, Rangarajan, Hemalatha G., Shah, Ami J., Gillio, Alfred P., Knutsen, Alan P., Miller, Holly K., Moore, Theodore B., Graham, Pamela, Bauchat, Andrea, Bunin, Nancy J., Teira, Pierre, Petrovic, Aleksandra, Chandra, Sharat, Abdel-Azim, Hisham, Dorsey, Morna J., Birbrayer, Olga, Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer M., Pulsipher, Michael A., Torgerson, Troy R., Malech, Harry L., and Kang, Elizabeth M.

Published
2023
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16. Alemtuzumab and CXCL9 levels predict likelihood of sustained engraftment after reduced-intensity conditioning HCT

Author

Geerlinks, Ashley V., Scull, Brooks, Krupski, Christa, Fleischmann, Ryan, Pulsipher, Michael A., Eapen, Mary, Connelly, James A., Bollard, Catherine M., Pai, Sung-Yun, Duncan, Christine N., Kean, Leslie S., Baker, K. Scott, Burroughs, Lauri M., Andolina, Jeffrey R., Shenoy, Shalini, Roehrs, Philip, Hanna, Rabi, Talano, Julie-An, Schultz, Kirk R., Stenger, Elizabeth O., Lin, Howard, Zoref-Lorenz, Adi, McClain, Kenneth L., Jordan, Michael B., Man, Tsz-Kwong, Allen, Carl E., and Marsh, Rebecca A.

Published
2023
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17. Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

Author

Marsh, Rebecca, Leiding, Jennifer, Logan, Brent, Griffith, Linda, Arnold, Danielle, Haddad, Elie, Falcone, E, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack, Sullivan, Kathleen, Heimall, Jennifer, Burroughs, Lauri, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie, Oshrine, Benjamin, Cuvelier, Geoffrey, Thakar, Monica, Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa, Martinez, Caridad, Chellapandian, Deepak, Dávila Saldaña, Blachy, Shah, Ami, Weinacht, Katja, Joshi, Avni, Boulad, Farid, Quigg, Troy, Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M, DeSantes, Kenneth, Stenger, Elizabeth, Pai, Sung-Yun, Routes, John, Kapoor, Neena, Pulsipher, Michael, Malech, Harry, Parikh, Suhag, Kang, Elizabeth, Notarangelo, Luigi, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, and Kohn, Donald

Abstract

The original version of this article unfortunately contained the missing author, Caridad Martinez. The authors would like to correct the list. We apologize for any inconvenience that this may have caused. The correct author list is shown above.

Published
2020

18. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.

Author

Kuo, Caroline Y, Garabedian, Elizabeth, Puck, Jennifer, Cowan, Morton J, Sullivan, Kathleen E, Buckley, Rebecca H, Cunningham-Rundles, Charlotte, Marsh, Rebecca, Candotti, Fabio, and Kohn, Donald B

Subjects
Humans, Severe Combined Immunodeficiency, Disease Susceptibility, Adenosine Deaminase, Hematopoietic Stem Cell Transplantation, Registries, Child, Child, Preschool, Infant, Infant, Newborn, Disease Management, United States, Female, Male, Genetic Therapy, Public Health Surveillance, Infections, ADA-SCID, Adenosine deaminase–deficient severe combined immune deficiency, US Immunodeficiency Network, gene therapy, hematopoietic stem cell transplant, immunodeficiency, Pediatric, Regenerative Medicine, Pediatric Research Initiative, Stem Cell Research, Transplantation, Clinical Research, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Adenosine deaminase-deficient severe combined immune deficiency, Immunology
Abstract

Clinical data from ADA-SCID patients registered in the U.S. Immunodeficiency Network (USIDNet) Repository were analyzed. Sixty-four ADA-SCID patients born between 1981 and 2017 had clinical data entered by their local (or home) enrolling institution. Median age at diagnosis was 1 month for those with a positive family history and 3 months for those without a prior family history, with some diagnosed at birth and one as late as 9 years of age. Overall survival was 79.7%, which increased to 94.1% since 2010. These patients had multiple infections and pulmonary, gastrointestinal, and neurological complications. The majority received enzyme replacement therapy (ERT) at some time, including 88% of those born since 2010. Twenty-six patients underwent allogeneic hematopoietic stem cell transplant (HSCT). HSCT successfully supported survival (17/26, 65%) using a variety of cell sources (bone marrow, mobilized peripheral blood, and cord blood) from sibling, family and unrelated donors. Nineteen patients underwent autologous HSCT with gene therapy (GT) using retroviral and lentiviral vectors and all are surviving. The prognosis for patients with ADA-SCID has continued to improve but these patients do have multiple early and potentially long-term conditions that require medical monitoring and management.

Published
2020

19. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.

Author

Chan, Alice Y, Leiding, Jennifer W, Liu, Xuerong, Logan, Brent R, Burroughs, Lauri M, Allenspach, Eric J, Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D, Slatter, Mary, Gennery, Andrew R, Smith, Angela R, Pai, Sung-Yun, Jordan, Michael B, Marsh, Rebecca A, Cowan, Morton J, Dvorak, Christopher C, Craddock, John A, Prockop, Susan E, Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H, Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R, Bednarski, Jeffrey J, Cooper, Megan A, Shenoy, Shalini, Davila Saldana, Blachy J, Forbes, Lisa R, Martinez, Caridad, Haddad, Elie, Shyr, David C, Chen, Karin, Sullivan, Kathleen E, Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey DE, Goldman, Frederick D, Meyts, Isabelle, Miller, Holly K, Seidel, Markus G, Vander Lugt, Mark T, Bacchetta, Rosa, Weinacht, Katja G, Andolina, Jeffrey R, Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M, Shereck, Evan, Walter, Jolan E, Dorsey, Morna J, Seroogy, Christine M, Griffith, Linda M, Kohn, Donald B, Puck, Jennifer M, Pulsipher, Michael A, and Torgerson, Troy R

Subjects
Animals, Humans, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, T-Lymphocytes, Regulatory, Young Adult, Surveys and Questionnaires, Primary Immunodeficiency Diseases, autoimmunity, genetics, hematopoietic cell transplant, immune dysregulation, primary immune deficiencies, Clinical Research, Rare Diseases, Transplantation, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Inflammatory and immune system, Immunology, Medical Microbiology
Abstract

Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminished and exaggerated immune responses. Management of these patients is complicated; oftentimes immunosuppressive therapies are insufficient, and patients may require hematopoietic cell transplant (HCT) for treatment. Analysis of HCT data in PIRD patients have previously focused on a single gene defect. This study surveyed transplanted patients with a phenotypic clinical picture consistent with PIRD treated in 33 Primary Immune Deficiency Treatment Consortium centers and European centers. Our data showed that PIRD patients often had immunodeficient and autoimmune features affecting multiple organ systems. Transplantation resulted in resolution of disease manifestations in more than half of the patients with an overall 5-years survival of 67%. This study, the first to encompass disorders across the PIRD spectrum, highlights the need for further research in PIRD management.

Published
2020

22. Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

Author

Marsh, Rebecca A, Leiding, Jennifer W, Logan, Brent R, Griffith, Linda M, Arnold, Danielle E, Haddad, Elie, Falcone, E Liana, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack J, Sullivan, Kathleen E, Heimall, Jennifer, Burroughs, Lauri M, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie C, Oshrine, Benjamin R, Cuvelier, Geoffrey DE, Thakar, Monica S, Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa R, Chellapandian, Deepak, Dávila Saldaña, Blachy J, Shah, Ami J, Weinacht, Katja G, Joshi, Avni, Boulad, Farid, Quigg, Troy C, Dvorak, Christopher C, Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M Teresa, DeSantes, Kenneth, Cowan, Morton J, Notarangelo, Luigi D, Kohn, Donald B, Stenger, Elizabeth, Pai, Sung-Yun, Routes, John M, Puck, Jennifer M, Kapoor, Neena, Pulsipher, Michael A, Malech, Harry L, Parikh, Suhag, Kang, Elizabeth M, and submitted on behalf of the Primary Immune Deficiency Treatment Consortium

Subjects
submitted on behalf of the Primary Immune Deficiency Treatment Consortium, Neutrophils, Transplantation Chimera, Humans, Inflammatory Bowel Diseases, Granulomatous Disease, Chronic, Graft vs Host Disease, Leukocyte Count, Prognosis, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Transplantation, Homologous, Severity of Illness Index, Incidence, Retrospective Studies, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Allogeneic hematopoietic cell transplantation, allogeneic bone marrow transplantation, allogeneic hematopoietic stem cell transplantation, chronic granulomatous disease, inflammatory bowel disease, primary immunodeficiency, Autoimmune Disease, Inflammatory Bowel Disease, Digestive Diseases, Rare Diseases, Clinical Research, Transplantation, Oral and gastrointestinal, Immunology
Abstract

IntroductionInflammatory bowel disease (IBD) affects approximately 1/3 of patients with chronic granulomatous disease (CGD). Comprehensive investigation of the effect of allogeneic hematopoietic cell transplantation (HCT) on CGD IBD and the impact of IBD on transplant outcomes is lacking.MethodsWe collected data retrospectively from 145 patients with CGD who had received allogeneic HCT at 26 Primary Immune Deficiency Treatment Consortium (PIDTC) centers between January 1, 2005 and June 30, 2016.ResultsForty-nine CGD patients with IBD and 96 patients without IBD underwent allogeneic HCT. Eighty-nine percent of patients with IBD and 93% of patients without IBD engrafted (p = 0.476). Upper gastrointestinal acute GVHD occurred in 8.5% of patients with IBD and 3.5% of patients without IBD (p = 0.246). Lower gastrointestinal acute GVHD occurred in 10.6% of patients with IBD and 11.8% of patients without IBD (p = 0.845). The cumulative incidence of acute GVHD grades II-IV was 30% (CI 17-43%) in patients with IBD and 20% (CI 12-29%) in patients without IBD (p = 0.09). Five-year overall survival was equivalent for patients with and without IBD: 80% [CI 66-89%] and 83% [CI 72-90%], respectively (p = 0.689). All 33 surviving evaluable patients with a history of IBD experienced resolution of IBD by 2 years following allogeneic HCT.ConclusionsIn this cohort, allogeneic HCT was curative for CGD-associated IBD. IBD should not contraindicate HCT, as it does not lead to an increased risk of mortality. This study is registered at clinicaltrials.gov NCT02082353.

Published
2019

23. Practice pattern changes and improvements in hematopoietic cell transplantation for primary immunodeficiencies

Author

Marsh, Rebecca A, Hebert, Kyle M, Keesler, Daniel, Boelens, Jaap J, Dvorak, Christopher C, Eckrich, Michael J, Kapoor, Neena, Parikh, Suhag, and Eapen, Mary

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Child, Child, Preschool, Hematopoietic Stem Cell Transplantation, Humans, Immunologic Deficiency Syndromes, Infant, Practice Patterns, Physicians', Survival Analysis, Immunology, Allergy
Abstract

Allogeneic HCT practice patterns for PID changed between 1974–2016. Three-year survival improved to >70% for SCID and non-SCID patients after 1999, and further increased to 94% for SCID patients transplanted 2010–2016 following newborn screening diagnosis.

Published
2018

24. T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency

Author

Clarke, Erik L, Connell, A Jesse, Six, Emmanuelle, Kadry, Nadia A, Abbas, Arwa A, Hwang, Young, Everett, John K, Hofstaedter, Casey E, Marsh, Rebecca, Armant, Myriam, Kelsen, Judith, Notarangelo, Luigi D, Collman, Ronald G, Hacein-Bey-Abina, Salima, Kohn, Donald B, Cavazzana, Marina, Fischer, Alain, Williams, David A, Pai, Sung-Yun, and Bushman, Frederic D

Subjects
Biological Sciences, Genetics, Regenerative Medicine, Biotechnology, Gene Therapy, Clinical Research, Stem Cell Research, Inflammatory and immune system, Infection, Cell Division, Child, Preschool, Complementarity Determining Regions, Genetic Therapy, Humans, Microbiota, Receptors, Antigen, T-Cell, alpha-beta, T-Lymphocytes, X-Linked Combined Immunodeficiency Diseases, Clinical Sciences
Abstract

BackgroundMutation of the IL2RG gene results in a form of severe combined immune deficiency (SCID-X1), which has been treated successfully with hematopoietic stem cell gene therapy. SCID-X1 gene therapy results in reconstitution of the previously lacking T cell compartment, allowing analysis of the roles of T cell immunity in humans by comparing before and after gene correction.MethodsHere we interrogate T cell reconstitution using four forms of high throughput analysis. (1) Estimation of the numbers of transduced progenitor cells by monitoring unique positions of integration of the therapeutic gene transfer vector. (2) Estimation of T cell population structure by sequencing of the recombined T cell receptor (TCR) beta locus. (3) Metagenomic analysis of microbial populations in oropharyngeal, nasopharyngeal, and gut samples. (4) Metagenomic analysis of viral populations in gut samples.ResultsComparison of progenitor and mature T cell populations allowed estimation of a minimum number of cell divisions needed to generate the observed populations. Analysis of microbial populations showed the effects of immune reconstitution, including normalization of gut microbiota and clearance of viral infections. Metagenomic analysis revealed enrichment of genes for antibiotic resistance in gene-corrected subjects relative to healthy controls, likely a result of higher healthcare exposure.ConclusionsThis multi-omic approach enables the characterization of multiple effects of SCID-X1 gene therapy, including T cell repertoire reconstitution, estimation of numbers of cell divisions between progenitors and daughter T cells, normalization of the microbiome, clearance of microbial pathogens, and modulations in antibiotic resistance gene levels. Together, these results quantify several aspects of the long-term efficacy of gene therapy for SCID-X1. This study includes data from ClinicalTrials.gov numbers NCT01410019, NCT01175239, and NCT01129544.

Published
2018

25. Prospective two center study of CD38 bright CD8+ effector memory T-cells as a predictor of acute GVHD

Author

Khandelwal, Pooja, Chaturvedi, Vijaya, Owsley, Erika, Efebera, Yvonne A., Choe, Hannah, Bostic, Matthew, Kumchala, Prashanti, Rajgolikar, Girish, Ranganathan, Parvathi, Garzon, Ramiro, Lake, Kelly, Litts, Bridget, Duell, Alexandra, Elder, Patrick, Davies, Stella M., Lane, Adam, Jordan, Michael B., Vasu, Sumithra, Devine, Steven, and Marsh, Rebecca A.

Published
2022
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28. Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry

Author

Puck, Jennifer, Secord, Elizabeth, Akhter, Javeed, Pozos, Tamara, Fuleihan, Ramsay, Chen, Karin, Buckley, Rebecca, Patel, Niraj, Suez, Daniel, Cooper, Megan, Butte, Manish, Bonilla, Francisco, Walkovich, Kelly, Haddad, Elie, Cunningham-Rundles, Charlotte, Kleiner, Gary, Chong, Hey, Ballas, Zuhair, Uygungil, Burcin, Hernandez-Trujillo, Vivian, Secord, Elizabeth A., Hartog, Nicholas, Dorsey, Morna, Shapiro, Ralph, Schuval, Susan, Notarangelo, Luigi, Routes, John, Knight, Adina, Bennett, Nicholas, Khan, Fatima, Walter, Jolan, Seroogy, Christine, Ochs, Hans, Haines, Kathleen, Muskat, Mica, Costa Reis, Patricia, Cheng, Laurence, Durkee-Shock, Jessica, Zhang, Anqing, Liang, Hua, Wright, Hannah, Magnusson, Julieann, Garabedian, Elizabeth, Marsh, Rebecca A., Sullivan, Kathleen E., and Keller, Michael D.

Published
2022
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31. T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome

Author

Kumar, Deepak, Prince, Chengyu, Bennett, Carolyn M., Briones, Michael, Lucas, Laura, Russell, Athena, Patel, Kiran, Chonat, Satheesh, Graciaa, Sara, Edington, Holly, White, Michael H., Kobrynski, Lisa, Abdalgani, Manar, Parikh, Suhag, Chandra, Sharat, Bleesing, Jack, Marsh, Rebecca, Park, Sunita, Waller, Edmund K., Prahalad, Sampath, and Chandrakasan, Shanmuganathan

Published
2022
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32. Reduced-Intensity Conditioning Mitigates Risk for Primary Ovarian Insufficiency but Does Not Decrease Risk for Infertility in Pediatric and Young Adult Survivors of Hematopoietic Stem Cell Transplantation

Author

Bender, Jonathan D., Toro, Helen Oquendo-del, Benoit, Janie, Howell, Jonathan C., Badia, Priscila, Davies, Stella M., Grimley, Michael S., Jodele, Sonata, Phillips, Christine, Burns, Karen, Marsh, Rebecca, Nelson, Adam, Wallace, Gregory, Dandoy, Christopher E., Pate, Abigail, Strine, Andrew C., Frias, Olivia, Breech, Lesley, Rose, Susan R., Hoefgen, Holly, Khandelwal, Pooja, and Myers, Kasiani C.

Published
2022
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34. Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD

Author

Arnold, Danielle E., Nofal, Rofida, Wakefield, Connor, Lehmberg, Kai, Wustrau, Katharina, Albert, Michael H., Morris, Emma C., Heimall, Jennifer R., Bunin, Nancy J., Kumar, Ashish, Jordan, Michael B., Cole, Theresa, Choo, Sharon, Brettig, Tim, Speckmann, Carsten, Ehl, Stephan, Salamonowicz, Malgorzata, Wahlstrom, Justin, Rao, Kanchan, Booth, Claire, Worth, Austen, and Marsh, Rebecca A.

Published
2022
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35. AAPM medical physics practice guideline 10.a.: Scope of practice for clinical medical physics

Author

Clements, Jessica B, Baird, Christopher T, Boer, Steven F, Fairobent, Lynne A, Fisher, Tyler, Goodwin, James H, Gress, Dustin A, Johnson, Jennifer Lynn, Kolsky, Kathryn L, Mageras, Gig S, Marsh, Rebecca M, Martin, Melissa C, Parker, Brent, Pavord, Daniel C, Schell, Michael C, Seibert, J Anthony, Stevens, Donna M, Tarver, Russell B, Waite‐Jones, Christopher G, and Wingreen, Nicholai

Subjects
Medical and Biological Physics, Biomedical and Clinical Sciences, Physical Sciences, Quality Education, Health Physics, Humans, Practice Guidelines as Topic, Radiation Dosage, Societies, Scientific, Other Physical Sciences, Clinical Sciences, Medical Physiology, Nuclear Medicine & Medical Imaging, Medical physiology, Medical and biological physics
Abstract

The American Association of Physicists in Medicine (AAPM) is a nonprofit professional society whose primary purposes are to advance the science, education, and professional practice of medical physics. The AAPM has more than 8000 members and is the principal organization of medical physicists in the United States. The AAPM will periodically define new practice guidelines for medical physics practice to help advance the science of medical physics and to improve the quality of service to patients throughout the United States. Existing medical physics practice guidelines will be reviewed for the purpose of revision or renewal, as appropriate, on their fifth anniversary or sooner. Each medical physics practice guideline (MPPG) represents a policy statement by the AAPM, has undergone a thorough consensus process in which it has been subjected to extensive review, and requires the approval of the Professional Council. The medical physics practice guidelines recognize that the safe and effective use of diagnostic and therapeutic radiation requires specific training, skills, and techniques as described in each document. As the review of the previous version of AAPM Professional Policy (PP)-17 (Scope of Practice) progressed, the writing group focused on one of the main goals: to have this document accepted by regulatory and accrediting bodies. After much discussion, it was decided that this goal would be better served through a MPPG. To further advance this goal, the text was updated to reflect the rationale and processes by which the activities in the scope of practice were identified and categorized. Lastly, the AAPM Professional Council believes that this document has benefitted from public comment which is part of the MPPG process but not the AAPM Professional Policy approval process. The following terms are used in the AAPM's MPPGs: Must and Must Not: Used to indicate that adherence to the recommendation is considered necessary to conform to this practice guideline. Should and Should Not: Used to indicate a prudent practice to which exceptions may occasionally be made in appropriate circumstances.

Published
2018

37. 106 Outcomes Following Hematopoietic Cell Transplant for CD3δ Severe Combined Immune Deficiency: a PIDTC Natural History Study

Author

Kalashnikova, Tatiana, primary, Cuvelier, Geoff, additional, Logan, Brent, additional, Grunebaum, Eyal, additional, Guilcher, Gregory, additional, Lewis, Victor, additional, McAuley, Grace, additional, Marwaha, Ashish, additional, Murguia-Favela, Luis, additional, Prince, Bradley, additional, Romero, Zulema, additional, Rubin, Tamar, additional, Suresh, Sneha, additional, Buckley, Rebecca, additional, Dvorak, Christopher, additional, Satter, Lisa, additional, Aquino, Victor, additional, Bunin, Nancy, additional, Joshi, Avni, additional, Prokop, Susan, additional, Heimall, Jennifer, additional, Haddad, Elie, additional, Leiding, Jennifer, additional, Puck, Jennifer, additional, Burroughs, Lauri, additional, Griffith, Linda, additional, Notarangelo, Luigi, additional, Pulsipher, Michael, additional, Cowan, Morton, additional, Marsh, Rebecca, additional, Pai, Sung-Yun, additional, Torgerson, Troy, additional, Kohn, Donald B., additional, and Wright, Nicola, additional

Published
2024
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39. A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency

Author

Knight, Vijaya, Heimall, Jennifer R., Chong, Hey, Nandiwada, Sarada L., Chen, Karin, Lawrence, Monica G., Sadighi Akha, Amir A., Kumánovics, Attila, Jyonouchi, Soma, Ngo, Suzanne Y., Vinh, Donald C., Hagin, David, Forbes Satter, Lisa R., Marsh, Rebecca A., Chiang, Samuel C.C., Willrich, Maria A.V., Frazer-Abel, Ashley A., and Rider, Nicholas L.

Published
2021
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41. Standardizing Definitions of Hematopoietic Recovery, Graft Rejection, Graft Failure, Poor Graft Function, and Donor Chimerism in Allogeneic Hematopoietic Cell Transplantation: A Report on Behalf of the American Society for Transplantation and Cellular Therapy

Author

Kharfan-Dabaja, Mohamed A., Kumar, Ambuj, Ayala, Ernesto, Aljurf, Mahmoud, Nishihori, Taiga, Marsh, Rebecca, Burroughs, Lauri M., Majhail, Navneet, Al-Homsi, A. Samer, Al-Kadhimi, Zaid S., Bar, Merav, Bertaina, Alice, Boelens, Jaap J., Champlin, Richard, Chaudhury, Sonali, DeFilipp, Zachariah, Dholaria, Bhagirathbhai, El-Jawahri, Areej, Fanning, Suzanne, Fraint, Ellen, Gergis, Usama, Giralt, Sergio, Hamilton, Betty K., Hashmi, Shahrukh K., Horn, Biljana, Inamoto, Yoshihiro, Jacobsohn, David A, Jain, Tania, Johnston, Laura, Kanate, Abraham S., Kansagra, Ankit, Kassim, Adetola, Kean, Leslie S., Kitko, Carrie L., Knight-Perry, Jessica, Kurtzberg, Joanne, Liu, Hien, MacMillan, Margaret L., Mahmoudjafari, Zahra, Mielcarek, Marco, Mohty, Mohamad, Nagler, Arnon, Nemecek, Eneida, Olson, Timothy S., Oran, Betul, Perales, Miguel-Angel, Prockop, Susan E., Pulsipher, Michael A., Pusic, Iskra, Riches, Marcie L., Rodriguez, Cesar, Romee, Rizwan, Rondon, Gabriela, Saad, Ayman, Shah, Nina, Shaw, Peter J., Shenoy, Shalini, Sierra, Jorge, Talano, Julie, Verneris, Michael R., Veys, Paul, Wagner, John E., Savani, Bipin N., Hamadani, Mehdi, and Carpenter, Paul A.

Published
2021
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42. Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation

Author

SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Böhm, Svea, Wustrau, Katharina, Pachlopnik Schmid, Jana, Prader, Seraina, Ahlmann, Martina, Yacobovich, Joanne, Beier, Rita, Speckmann, Carsten, Behnisch, Wolfgang, Ifversen, Marianne, Jordan, Michael, Marsh, Rebecca, Naumann-Bartsch, Nora, Mauz-Körholz, Christine, Hönig, Manfred, Schulz, Ansgar, Malinowska, Iwona, Hines, Melissa, Nichols, Kim E., Gil-Herrera, Juana, Talano, Julie An, Crooks, Bruce, Formankova, Renata, Jorch, Norbert, Bakhtiar, Shahrzad, Kühnle, Ingrid, Streiter, Monika, Nathrath, Michaela, Russo, Alexandra, Dürken, Matthias, Lang, Peter, Lindemans, Caroline, Henter, Jan Inge, Lehmberg, Kai, Ehl, Stephan, SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Böhm, Svea, Wustrau, Katharina, Pachlopnik Schmid, Jana, Prader, Seraina, Ahlmann, Martina, Yacobovich, Joanne, Beier, Rita, Speckmann, Carsten, Behnisch, Wolfgang, Ifversen, Marianne, Jordan, Michael, Marsh, Rebecca, Naumann-Bartsch, Nora, Mauz-Körholz, Christine, Hönig, Manfred, Schulz, Ansgar, Malinowska, Iwona, Hines, Melissa, Nichols, Kim E., Gil-Herrera, Juana, Talano, Julie An, Crooks, Bruce, Formankova, Renata, Jorch, Norbert, Bakhtiar, Shahrzad, Kühnle, Ingrid, Streiter, Monika, Nathrath, Michaela, Russo, Alexandra, Dürken, Matthias, Lang, Peter, Lindemans, Caroline, Henter, Jan Inge, Lehmberg, Kai, and Ehl, Stephan

Published
2024

44. Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.

Author

Vakkilainen, Svetlana, Ahonen, Kira, Marsh, Rebecca, Secord, Elizabeth, Puck, Jennifer, Pozos, Tamara, Seroogy, Christine M., Sullivan, Kathleen E., Walkovich, Kelly, Hartog, Nicholas L., Lugar, Patricia, Herget, Theresia, Garcia-Prat, Marina, Martin-Nalda, Andrea, Ciznar, Peter, Edgar, John David, Candotti, Fabio, Hellige, Antje, Kindle, Gerhard, and Dabrowska-Leonik, Nel

Subjects
SEVERE combined immunodeficiency, RUBELLA, MORTALITY risk factors, HERPES simplex
Abstract

This study examines the clinical features and risk factors associated with early mortality in patients with cartilage-hair hypoplasia (CHH), a rare genetic disorder. The study compares data from three international registries and finds that uncontrolled Epstein-Barr virus (EBV) infection is the only factor significantly correlated with early mortality. The study also notes that allogeneic hematopoietic stem cell transplantation (HSCT) was more common in the USIDNET registry, and that the median age at latest follow-up was shortest in the USIDNET cohort. The study concludes that screening for EBV infection and early management of uncontrolled EBV proliferation should be considered in CHH patients. [Extracted from the article]

Published
2024
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49. Outcomes Following Matched Sibling Donor Transplant for Severe Combined Immunodeficiency: A Report from the Pidtc

Author

Rayes, Ahmad, primary, Logan, Brent, additional, Liu, Xuerong, additional, Dara, Jasmeen, additional, Buckley, Rebecca H., additional, Oved, Joseph H., additional, Kapoor, Neena, additional, Kapadia, Malika, additional, Chandra, Sharat, additional, Martinez, Caridad, additional, Bunin, Nancy J., additional, Chandrakasan, Shanmuganathan, additional, Burroughs, Lauri M., additional, Bednarski, Jeffrey J, additional, Haines, Hilary, additional, Cuvelier, Geoff D.E., additional, Eissa, Hesham, additional, Talano, Julie A, additional, Saldana, Blachy J, additional, Ebens, Christen L., additional, Chaudhury, Sonali, additional, Shereck, Evan, additional, Aquino, Victor, additional, Knutsen, Alan P., additional, Alexander, Jessie L, additional, Gillio, Alfred P., additional, Chellapandian, Deepak, additional, Shah, Ami J., additional, Miller, Holly K., additional, Lugt, Mark T. Vander, additional, DeSantes, Kenneth, additional, Dorsey, Morna, additional, Parrott, Roberta E, additional, O'Reilly, Richard J., additional, Aguayo-Hiraldo, Paibel, additional, Torgerson, Troy, additional, Leiding, Jennifer W., additional, Marsh, Rebecca A., additional, Griffith, Linda M., additional, Pulsipher, Mike A., additional, Kohn, Donald B., additional, Notarangelo, Luigi D., additional, Cowan, Morton J., additional, Puck, Jennifer, additional, Heimall, Jennifer R., additional, Haddad, Elie, additional, Pai, Sung-Yun, additional, and Dvorak, Christopher C., additional

Published
2024
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50. Part 5: Allogeneic HSCT in refractory SJIA with lung disease; recent cases from centers in North America & Europe

Author

Grom, Alexei A., primary, Canna, Scott W., additional, Abu-Arja, Rolla F., additional, Sinha, Rashmi, additional, Peixoto, Luciana, additional, Cannizzaro, Elvira, additional, Chandrakasan, Shanmuganathan, additional, Driest, Kyla, additional, Marsh, Rebecca, additional, Neven, Bénédicte, additional, Onel, Karen, additional, Prahalad, Sampath, additional, Prockop, Susan, additional, Quartier, Pierre, additional, Roth, Johannes, additional, Schulert, Grant, additional, Silva, Juliana M.F., additional, Wall, Donna, additional, and Zeilhofer, Ulrike, additional

Published
2024
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