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5. Conclusion: Playing with Human Change

Author

Forbes, Lisa K., Thomas, David, Shin, Jung Cheol, Series Editor, Horta, Hugo, Series Editor, Teichler, Ulrich, Editorial Board Member, Leydesdorff, Loet, Editorial Board Member, Marginson, Simon, Editorial Board Member, Lee, Keun, Editorial Board Member, Rhoades, Gary, Editorial Board Member, Baecher, Laura, editor, and Portnoy, Lindsay, editor

Published
2024
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6. The Process of Play in Learning in Higher Education: A Phenomenological Study

Author

Forbes, Lisa K.

Abstract

Higher education faculty strive to adopt pedagogical approaches that generate student engagement, motivation, and quality learning experiences. The literature on play has much to offer higher education. However, playful pedagogy remains an uncommon approach in education and is often represented in the literature as a practice utilized for a singular purpose and not as an underlying teaching philosophy. This phenomenological study examines the meaning of students' experiences of play as a foundation to learning. The themes that emerge are: 1) play is underutilized and devalued in higher education, 2) play cultivates relational safety and a warm classroom environment, 3) play removes barriers to learning, 4) play awakens students' positive affect and motivation, and 5) play ignites an open and engaged learning stance to enhance learning.

Published
2021

7. IFN-γ Signature in the Plasma Proteome Distinguishes Pediatric Hemophagocytic Lymphohistiocytosis from Sepsis and SIRS

Author

Lin, Howard, Scull, Brooks P, Goldberg, Baruch R, Abhyankar, Harshal A, Eckstein, Olive S, Zinn, Daniel J, Lubega, Joseph, Agrusa, Jennifer, El-Mallawanay, Nader K, Gulati, Nitya, Forbes, Lisa R, Chinn, Ivan K, Chakraborty, Rikhia, Velazquez, Jessica, Goldman, Jordana, Bashir, Dalia A, Lam, Fong Wilson, Muscal, Eyal, Henry, Michael M, Greenberg, Jay, Ladisch, Stephan, Hermiston, Michelle L, Meyer, Lauren K, Jeng, Michael Raymond, Naqvi, Ahmed, McClain, Kenneth L, Nguyen, Trung, Wong, Hector R, Man, Tsz-Kwong, Jordan, Michael B, and Allen, Carl E

Subjects
Pediatric, Infectious Diseases, Rare Diseases, Hematology, Clinical Research, Sepsis, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Inflammatory and immune system, Child, Diagnosis, Differential, Humans, Interferon-gamma, Lymphohistiocytosis, Hemophagocytic, Proteome, Systemic Inflammatory Response Syndrome
Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome characterized by pathologic immune activation in which prompt recognition and initiation of immune suppression is essential for survival. Children with HLH have many overlapping clinical features with critically ill children with sepsis and systemic inflammatory response syndrome (SIRS) in whom alternative therapies are indicated. To determine whether plasma biomarkers could differentiate HLH from other inflammatory conditions and to better define a core inflammatory signature of HLH, concentrations of inflammatory plasma proteins were compared in 40 patients with HLH to 47 pediatric patients with severe sepsis or SIRS. Fifteen of 135 analytes were significantly different in HLH plasma compared with SIRS/sepsis, including increased interferon-γ (IFN-γ)-regulated chemokines CXCL9, CXCL10, and CXCL11. Furthermore, a 2-analyte plasma protein classifier including CXCL9 and interleukin-6 was able to differentiate HLH from SIRS/sepsis. Gene expression in CD8+ T cells and activated monocytes from blood were also enriched for IFN-γ pathway signatures in peripheral blood cells from patients with HLH compared with SIRS/sepsis. This study identifies differential expression of inflammatory proteins as a diagnostic strategy to identify critically ill children with HLH, and comprehensive unbiased analysis of inflammatory plasma proteins and global gene expression demonstrates that IFN-γ signaling is uniquely elevated in HLH. In addition to demonstrating the ability of diagnostic criteria for HLH and sepsis or SIRS to identify groups with distinct inflammatory patterns, results from this study support the potential for prospective evaluation of inflammatory biomarkers to aid in diagnosis of and optimizing therapeutic strategies for children with distinctive hyperinflammatory syndromes.

Published
2021

8. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.

Author

Dorsey, Morna J, Wright, Nicola AM, Chaimowitz, Natalia S, Dávila Saldaña, Blachy J, Miller, Holly, Keller, Michael D, Thakar, Monica S, Shah, Ami J, Abu-Arja, Rolla, Andolina, Jeffrey, Aquino, Victor, Barnum, JL, Bednarski, Jeffrey J, Bhatia, Monica, Bonilla, Francisco A, Butte, Manish J, Bunin, Nancy J, Chandra, Sharat, Chaudhury, Sonali, Chen, Karin, Chong, Hey, Cuvelier, Geoffrey DE, Dalal, Jignesh, DeFelice, Magee L, DeSantes, Kenneth B, Forbes, Lisa R, Gillio, Alfred, Goldman, Fred, Joshi, Avni Y, Kapoor, Neena, Knutsen, Alan P, Kobrynski, Lisa, Lieberman, Jay A, Leiding, Jennifer W, Oshrine, Benjamin, Patel, Kiran P, Prockop, Susan, Quigg, Troy C, Quinones, Ralph, Schultz, Kirk R, Seroogy, Christine, Shyr, David, Siegel, Subhadra, Smith, Angela R, Torgerson, Troy R, Vander Lugt, Mark T, Yu, Lolie C, Cowan, Morton J, Buckley, Rebecca H, Dvorak, Christopher C, Griffith, Linda M, Haddad, Elie, Kohn, Donald B, Logan, Brent, Notarangelo, Luigi D, Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael A, and Heimall, Jennifer

Subjects
Humans, Severe Combined Immunodeficiency, Disease Susceptibility, Neonatal Screening, Prognosis, Antibiotic Prophylaxis, Hematopoietic Stem Cell Transplantation, Age of Onset, Infection Control, Infant, Infant, Newborn, Disease Management, Female, Male, Public Health Surveillance, Time-to-Treatment, Surveys and Questionnaires, Clinical Decision-Making, Infections, hematopoietic stem cell transplant, newborn screening, primary immunodeficiency, prophylaxis, severe combined immunodeficiency, Stem Cell Research, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Prevention, Regenerative Medicine, Transplantation, Infant Mortality, Health Services, Clinical Research, Infection, Immunology
Abstract

PurposeThe Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children with severe combined immunodeficiency (SCID) in a prospective natural history study of hematopoietic stem cell transplant (HSCT) outcomes over the last decade. Despite newborn screening (NBS) for SCID, infections occurred prior to HSCT. This study's objectives were to define the types and timing of infection prior to HSCT in patients diagnosed via NBS or by family history (FH) and to understand the breadth of strategies employed at PIDTC centers for infection prevention.MethodsWe analyzed retrospective data on infections and pre-transplant management in patients with SCID diagnosed by NBS and/or FH and treated with HSCT between 2010 and 2014. PIDTC centers were surveyed in 2018 to understand their practices and protocols for pre-HSCT management.ResultsInfections were more common in patients diagnosed via NBS (55%) versus those diagnosed via FH (19%) (p = 0.012). Outpatient versus inpatient management did not impact infections (47% vs 35%, respectively; p = 0.423). There was no consensus among PIDTC survey respondents as to the best setting (inpatient vs outpatient) for pre-HSCT management. While isolation practices varied, immunoglobulin replacement and antimicrobial prophylaxis were more uniformly implemented.ConclusionInfants with SCID diagnosed due to FH had lower rates of infection and proceeded to HSCT more quickly than did those diagnosed via NBS. Pre-HSCT management practices were highly variable between centers, although uses of prophylaxis and immunoglobulin support were more consistent. This study demonstrates a critical need for development of evidence-based guidelines for the pre-HSCT management of infants with SCID following an abnormal NBS.Trial registrationNCT01186913.

Published
2021

9. 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

10. 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

11. Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival

Author

Martinez, Caridad, Aguayo-Hiraldo, Paibel, Chaimowitz, Natalia, Forbes, Lisa, Rider, Nicholas, Nicholas, Sarah, Seeborg, Filiz, Chinen, Javier, Chinn, Ivan, Davis, Carla, Roseblatt, Howard, Noroski, Lenora, Omer, Bilal, John, Tami, Yassine, Khaled, Naik, Swati, Craddock, John, Bhar, Saleh, Allen, Carl, Ahmed, Nabil, Sasa, Ghadir, Steffin, David, Doherty, Erin, George, Anil, Salem, Baheyeldin, Friend, Brian, Hegde, Meenakshi, Brenner, Malcolm K., Heslop, Helen E., Leen, Ann, Peña, Amanda, Wu, Mengfen, Hanson, I. Celine, and Krance, Robert A.

Published
2023
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12. 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

13. Mothers' and fathers' parenting attitudes during COVID-19

Author

Forbes, Lisa K., Lamar, Margaret R., Speciale, Megan, and Donovan, Courtney

Subjects
Fathers, Sex role, Parent and child, Parenting, Psychology and mental health
Abstract

Attitudes about parenting are derived from early socialization of gender role norms and often include intensive parenting beliefs, which give mothers an outsized role in parenting. This study examined the differences in intensive parenting beliefs among cisgender mothers and fathers during the United States COVID-19 response. Data from a sample of 1048 mothers and fathers were collected during March and April 2020 to understand parenting beliefs. Results indicated that some demographic factors, including gender and ethnicity, impact intensive parenting beliefs. Additionally, the number of COVID-19 cases in a state, along with school closure length, was related to intensive parenting beliefs., Author(s): Lisa K. Forbes [sup.1], Margaret R. Lamar [sup.2], Megan Speciale [sup.2], Courtney Donovan [sup.3] Author Affiliations: (1) grid.241116.1, 0000000107903411, Counseling Program, University of Colorado Denver, , 1380 Lawrence Street, [...]

Published
2022
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15. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

Author

Forbes, Lisa R., Eckstein, Olive S., Gulati, Nitya, Peckham-Gregory, Erin C., Ozuah, Nmazuo W., Lubega, Joseph, El-Mallawany, Nader K., Agrusa, Jennifer E., Poli, M. Cecilia, Vogel, Tiphanie P., Chaimowitz, Natalia S., Rider, Nicholas L., Mace, Emily M., Orange, Jordan S., Caldwell, Jason W., Aldave-Becerra, Juan C., Jolles, Stephen, Saettini, Francesco, Chong, Hey J., Stray-Pedersen, Asbjorg, Heslop, Helen E., Kamdar, Kala Y., Rouce, R. Helen, Muzny, Donna M., Jhangiani, Shalini N., Gibbs, Richard A., Coban-Akdemir, Zeynep H., Lupski, James R., McClain, Kenneth L., Allen, Carl E., and Chinn, Ivan K.

Published
2022
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16. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Author

Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Subjects
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy
Abstract

BackgroundImmunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.ObjectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.MethodsClinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.ResultsWe confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.ConclusionsPatients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.

Published
2018

17. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Author

Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, and Lupski, James R

Subjects
Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy
Abstract

BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Published
2017

18. The Mental Health of U.S. Parents During the COVID-19 Pandemic

Author

Lamar, Margaret R., Speciale, Megan, Forbes, Lisa K., and Donovan, Courtney

Subjects
United States. National Center for Health Statistics, Epidemics -- Psychological aspects, Mental health -- Psychological aspects, Psychiatric services -- Psychological aspects, Substance abuse -- Psychological aspects, Stress (Psychology) -- Psychological aspects, Health, Psychology and mental health
Abstract

Evidence suggests parents experience unique pandemic-related stressors related to isolation, food insecurity, school closures, and unemployment. This study examined 1,048 U.S. parents' depression, anxiety, stress, and alcohol and substance use behaviors during March and April 2020 to better understand the impact of pandemicrelated conditions on parents' mental health. Mean scores indicated severe levels of depression and stress and extremely severe anxiety. Nearly two thirds (74.7%) indicated alcohol use in the past month, with 26.5% scoring in the range for problem alcohol use. Almost half of the sample reported using at least one substance in the preiious 2 weeks. Men had significantly higher alcohol consumption and substance use than women. Depression, anxiety, and stress were higher for parents who consumed alcohol or substances and had a history of depression or anxiety. The longterm impact of COVID-19 is unknown, and mental health care is likely to be in high demand moving forward., The rapid spread of the infectious novel coronavirus disease (COVID-19) in spring 2020 presented innumerable challenges to people and communities across the world. In addition to fears related to mortality [...]

Published
2021
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19. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report

Author

Burroughs, Lauri M., Petrovic, Aleksandra, Brazauskas, Ruta, Liu, Xuerong, Griffith, Linda M., Ochs, Hans D., Bleesing, Jack J., Edwards, Stephanie, Dvorak, Christopher C., Chaudhury, Sonali, Prockop, Susan E., Quinones, Ralph, Goldman, Frederick D., Quigg, Troy C., Chandrakasan, Shanmuganathan, Smith, Angela R., Parikh, Suhag, Dávila Saldaña, Blachy J., Thakar, Monica S., Phelan, Rachel, Shenoy, Shalini, Forbes, Lisa R., Martinez, Caridad, Chellapandian, Deepak, Shereck, Evan, Miller, Holly K., Kapoor, Neena, Barnum, Jessie L., Chong, Hey, Shyr, David C., Chen, Karin, Abu-Arja, Rolla, Shah, Ami J., Weinacht, Katja G., Moore, Theodore B., Joshi, Avni, DeSantes, Kenneth B., Gillio, Alfred P., Cuvelier, Geoffrey D.E., Keller, Michael D., Rozmus, Jacob, Torgerson, Troy, Pulsipher, Michael A., Haddad, Elie, Sullivan, Kathleen E., Logan, Brent R., Kohn, Donald B., Puck, Jennifer M., Notarangelo, Luigi D., Pai, Sung-Yun, Rawlings, David J., and Cowan, Morton J.

Published
2020
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21. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Author

Kuhny, Marcel, Forbes, Lisa R., Cakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K., Glauzy, Salome, Stray-Pedersen, Asbjorg, Pezzi, Ashley E., Hanson, I. Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Chinn, Ivan K., Schatz, David G., Orange, Jordan S., and Meffre, Eric

Subjects
Thermo Fisher Scientific Inc. -- International economic relations, B cells -- Genetic aspects, Immunoglobulin G, Health care industry
Abstract

Patients with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC) generate few isotypeswitched B cells with severely decreased frequencies of somatic hypermutations (SHMs), but their underlying molecular defects remain poorly characterized. We identified a CVID+AIC patient who displays a rare homozygous missense M466V mutation in [beta]-catenin-like protein 1 (CTNNBL1). Because CTNNBL1 binds activation-induced cytidine deaminase (AID) that catalyzes SHM, we tested AID interactions with the CTNNBL1 M466V variant. We found that the M466V mutation interfered with the association of CTNNBL1 with AID, resulting in decreased AID in the nuclei of patient EBV-transformed B cell lines and of CTNNBL1 [466.sup.V/V] Ramos B cells engineered to express only CTNNBL1 M466V using CRISPR/Cas9 technology. As a consequence, the scarce IgG+ memory B cells from the CTNNBL1 [466.sup.V/V] patient showed a low SHM frequency that averaged 6.7 mutations compared with about 18 mutations per clone in healthy-donor counterparts. In addition, CTNNBL1 [466.sup.V/V] Ramos B cells displayed a decreased incidence of SHM that was reduced by half compared with parental WT Ramos B cells, demonstrating that the CTNNBL1 M466V mutation is responsible for defective SHM induction. We conclude that CTNNBL1 plays an important role in regulating AID-dependent antibody diversification in humans., Introduction Isotype-switched high-affinity antibodies are essential for protection against a vast range of pathogens. Activation-induced cytidine deaminase (AID) is the enzyme that mediates somatic hypermutation (SHM) and class-switch recombination (CSR), [...]

Published
2020
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22. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Author

Watkin, Levi B, Jessen, Birthe, Wiszniewski, Wojciech, Vece, Timothy J, Jan, Max, Sha, Youbao, Thamsen, Maike, Santos-Cortez, Regie LP, Lee, Kwanghyuk, Gambin, Tomasz, Forbes, Lisa R, Law, Christopher S, Stray-Pedersen, Asbjørg, Cheng, Mickie H, Mace, Emily M, Anderson, Mark S, Liu, Dongfang, Tang, Ling Fung, Nicholas, Sarah K, Nahmod, Karen, Makedonas, George, Canter, Debra L, Kwok, Pui-Yan, Hicks, John, Jones, Kirk D, Penney, Samantha, Jhangiani, Shalini N, Rosenblum, Michael D, Dell, Sharon D, Waterfield, Michael R, Papa, Feroz R, Muzny, Donna M, Zaitlen, Noah, Leal, Suzanne M, Gonzaga-Jauregui, Claudia, Boerwinkle, Eric, Eissa, N Tony, Gibbs, Richard A, Lupski, James R, Orange, Jordan S, and Shum, Anthony K

Subjects
Biochemistry and Cell Biology, Biological Sciences, Autoimmune Disease, Lung, Arthritis, Genetics, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Amino Acid Sequence, Autoimmune Diseases, Child, Preschool, Coatomer Protein, Endoplasmic Reticulum, Endoplasmic Reticulum Stress, Female, Genetic Association Studies, Genetic Predisposition to Disease, Golgi Apparatus, HEK293 Cells, Humans, Infant, Lod Score, Lung Diseases, Interstitial, Male, Molecular Sequence Data, Pedigree, Protein Transport, Baylor-Hopkins Center for Mendelian Genomics, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Unbiased genetic studies have uncovered surprising molecular mechanisms in human cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted sequencing in five families with an apparent mendelian syndrome of autoimmunity characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease. We identified four unique deleterious variants in the COPA gene (encoding coatomer subunit α) affecting the same functional domain. Hypothesizing that mutant COPA leads to defective intracellular transport via coat protein complex I (COPI), we show that COPA variants impair binding to proteins targeted for retrograde Golgi-to-ER transport. Additionally, expression of mutant COPA results in ER stress and the upregulation of cytokines priming for a T helper type 17 (TH17) response. Patient-derived CD4(+) T cells also demonstrate significant skewing toward a TH17 phenotype that is implicated in autoimmunity. Our findings uncover an unexpected molecular link between a vesicular transport protein and a syndrome of autoimmunity manifested by lung and joint disease.

Published
2015

26. Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

Author

Dorsey, Morna, Wright, Nicola A. M., Chaimowitz, Natalia S., Dávila Saldaña, Blachy J., Miller, Holly, Keller, Michael D., Thakar, Monica S., Shah, Ami J., Abu-Arja, Rolla, Andolina, Jeffrey, Aquino, Victor, Barnum, J. L., Bednarski, Jeffrey J., Bhatia, Monica, Bonilla, Francisco A., Butte, Manish J., Bunin, Nancy J., Burroughs, Lauri M., Chandra, Sharat, Chaudhury, Sonali, Chen, Karin, Chong, Hey, Cuvelier, Geoff, Dalal, Jignesh, DeFelice, Magee L., DeSantes, Kenneth B., Forbes, Lisa R., Gillio, Alfred, Goldman, Fred, Joshi, Avni Y., Kapoor, Neena, Knutsen, Alan P., Kobrynski, Lisa, Lieberman, Jay A., Leiding, Jennifer W., Oshrine, Benjamin, Patel, Kiran P., Prockop, Susan, Quigg, Troy C., Quinones, Ralph, Schultz, Kirk R., Seroogy, Christine, Shyr, David, Siegel, Subhadra, Smith, Angela R., Torgerson, Troy R., Vander Lugt, Mark T., Yu, Lolie C., Cowan, Morton J., Buckley, Rebecca H., Dvorak, Christopher C., Griffith, Linda M., Haddad, Elie, Kohn, Donald B., Logan, Brent, Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Michael A., and Heimall, Jennifer

Published
2021
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27. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Author

Kwan, Antonia, Abraham, Roshini S, Currier, Robert, Brower, Amy, Andruszewski, Karen, Abbott, Jordan K, Baker, Mei, Ballow, Mark, Bartoshesky, Louis E, Bonagura, Vincent R, Bonilla, Francisco A, Brokopp, Charles, Brooks, Edward, Caggana, Michele, Celestin, Jocelyn, Church, Joseph A, Comeau, Anne Marie, Connelly, James A, Cowan, Morton J, Cunningham-Rundles, Charlotte, Dasu, Trivikram, Dave, Nina, De La Morena, Maria T, Duffner, Ulrich, Fong, Chin-To, Forbes, Lisa, Freedenberg, Debra, Gelfand, Erwin W, Hale, Jaime E, Hanson, I Celine, Hay, Beverly N, Hu, Diana, Infante, Anthony, Johnson, Daisy, Kapoor, Neena, Kay, Denise M, Kohn, Donald B, Lee, Rachel, Lehman, Heather, Lin, Zhili, Lorey, Fred, Abdel-Mageed, Aly, Manning, Adrienne, McGhee, Sean, Moore, Theodore B, Naides, Stanley J, Notarangelo, Luigi D, Orange, Jordan S, Pai, Sung-Yun, Porteus, Matthew, Rodriguez, Ray, Romberg, Neil, Routes, John, Ruehle, Mary, Rubenstein, Arye, Saavedra-Matiz, Carlos A, Scott, Ginger, Scott, Patricia M, Secord, Elizabeth, Seroogy, Christine, Shearer, William T, Siegel, Subhadra, Silvers, Stacy K, Stiehm, E Richard, Sugerman, Robert W, Sullivan, John L, Tanksley, Susan, Tierce, Millard L, Verbsky, James, Vogel, Beth, Walker, Rosalyn, Walkovich, Kelly, Walter, Jolan E, Wasserman, Richard L, Watson, Michael S, Weinberg, Geoffrey A, Weiner, Leonard B, Wood, Heather, Yates, Anne B, and Puck, Jennifer M

Subjects
Biomedical and Clinical Sciences, Public Health, Health Sciences, Infant Mortality, Pediatric, Rare Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Prevention, Good Health and Well Being, Female, Humans, Incidence, Infant, Newborn, Lymphopenia, Male, Neonatal Screening, Prognosis, Receptors, Antigen, T-Cell, Retrospective Studies, Severe Combined Immunodeficiency, Survival Analysis, T-Lymphocytes, United States, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

ImportanceNewborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births.ObjectivesTo present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments.DesignEpidemiological and retrospective observational study.SettingRepresentatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3,030,083 newborns screened with a TREC test.Main outcomes and measuresInfants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked.ResultsScreening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58,000 infants (95% CI, 1/46,000-1/80,000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87% (45/52), 92% (45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia.Conclusions and relevanceNewborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.

Published
2014

30. High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease

Author

Yanir, Asaf D., Hanson, Imelda C., Shearer, William T., Noroski, Lenora M., Forbes, Lisa R., Seeborg, Feliz O., Nicholas, Sarah, Chinn, Ivan, Orange, Jordan S., Rider, Nicholas L., Leung, Kathryn S., Naik, Swati, Carrum, George, Sasa, Ghadir, Hegde, Meenakshi, Omer, Bilal A., Ahmed, Nabil, Allen, Carl E., Khaled, Yassine, Wu, Meng-Fen, Liu, Hao, Gottschalk, Stephen M., Heslop, Helen E., Brenner, Malcolm K., Krance, Robert A., and Martinez, Caridad A.

Published
2018
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32. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Author

Chinn, Ivan K., Eckstein, Olive S., Peckham-Gregory, Erin C., Goldberg, Baruch R., Forbes, Lisa R., Nicholas, Sarah K., Mace, Emily M., Vogel, Tiphanie P., Abhyankar, Harshal A., Diaz, Maria I., Heslop, Helen E., Krance, Robert A., Martinez, Caridad A., Nguyen, Trung C., Bashir, Dalia A., Goldman, Jordana R., Stray-Pedersen, Asbjørg, Pedroza, Luis A., Poli, M. Cecilia, Aldave-Becerra, Juan C., McGhee, Sean A., Al-Herz, Waleed, Chamdin, Aghiad, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Cao, Tram N., Hong, Diana N., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., McClain, Kenneth L., and Allen, Carl E.

Published
2018
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33. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

Author

Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., and Orange, Jordan S.

Published
2018
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34. Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

Author

Vargas-Hernández, Alexander, Mace, Emily M., Zimmerman, Ofer, Zerbe, Christa S., Freeman, Alexandra F., Rosenzweig, Sergio, Leiding, Jennifer W., Torgerson, Troy, Altman, Matthew C., Schussler, Edith, Cunningham-Rundles, Charlotte, Chinn, Ivan K., Carisey, Alexandre F., Hanson, Imelda C., Rider, Nicholas L., Holland, Steven M., Orange, Jordan S., and Forbes, Lisa R.

Published
2018
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35. Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome

Author

Ngwube, Alexander, Hanson, I. Celine, Orange, Jordan, Rider, Nicholas L., Seeborg, Filiz, Shearer, William, Noroski, Lenora, Nicholas, Sarah, Forbes, Lisa, Leung, Kathryn, Sasa, Ghadir, Naik, Swati, Hegde, Meenakshi, Omer, Bilal, Ahmed, Nabil, Allen, Carl, Gottschalk, Stephen, Wu, Meng-Fen, Liu, Hao, Brenner, Malcolm, Heslop, Helen, Krance, Robert, and Martinez, Caridad

Published
2018
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36. Abstract 4 Excellent Event-Free-Survival and Immunoglobulin Independence for Patients with Severe Combined Immunodeficiency Transplanted with Umbilical Cord Blood Stem Cells

Author

Ubico, Erin Morales, primary, MacMath, Derek, additional, Omer, Bilal, additional, Doherty, Erin, additional, Llaurador, Gabriela, additional, Sasa, Ghadir, additional, Salem, Baheyeldin, additional, Khaled, Yassine, additional, Steffin, David, additional, Craddock, John, additional, George, Anil, additional, Brenner, Malcolm, additional, Heslop, Helen, additional, Bhar, Saleh, additional, Forbes, Lisa, additional, Nicholas, Sarah, additional, Noroski, Lenora, additional, Rider, Nicholas, additional, Chinn, Ivan, additional, Seeborg, Filiz, additional, Chinen, Javier, additional, Davis, Carla, additional, Pena, Amanda, additional, Wan, Tao, additional, Wu, Mengfen, additional, Shaver, Kristen, additional, Krance, Robert, additional, and Martinez, Caridad, additional

Published
2023
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38. Systematic Review and Expert Consensus on the Use of Orthoses (Splints and Casts) with Adults and Children after Burn Injury to Determine Practice Guidelines

Author

Parry, Ingrid S, Schneider, Jeffrey C, Yelvington, Miranda, Sharp, Patricia, Serghiou, Michael, Ryan, Colleen M, Richardson, Elizabeth, Pontius, Kara, Niszczak, Jonathan, McMahon, Margaret, MacDonald, Lori E, Lorello, David, Kehrer, Catherine Knox, Godleski, Matthew, Forbes, Lisa, Duch, Sarah, Crump, Donna, Chouinard, Annick, Calva, Valerie, Bills, Sara, Benavides, Lynne, Acharya, Hernish J, De Oliveira, Ana, Boruff, Jill, and Nedelec, Bernadette

Published
2020
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39. Helping Working Mothers Face the Challenges of an Intensive Mothering Culture

Author

Lamar, Margaret R., Forbes, Lisa K., and Capasso, Laura A.

Subjects
Child care, Working mothers, Households, Health, Psychology and mental health
Abstract

Approximately one third of women in the U.S. workforce have children 18 years of age or younger. In addition to the typical career development challenges faced by women, which include pay inequity, lower levels of education, and low career self-efficacy, working mothers do a disproportionate amount of unpaid household tasks and childcare, are seen as less competent and dedicated to their work, and face deeply entrenched cultural ideals of the best ways to he a mother. Counselors can help working mothers hy being aware of their own personal bias when counseling, validating the experience of working mothers, and utilizing appropriate and supportive interventions. It is recommended that counselors also help clients, their partners, and their families develop strategies to reduce the impact of the intensive mothering culture at work and home., The rise of women in the workforce and their unique career development needs have been well established (Betz, 2006; Coogan & Chen, 2007; Fouad & Ihle, 2017; Gysbers, Heppner, & [...]

Published
2019
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40. Amplified STAT3 signaling alters expression of CD39 in STAT3 gain-of-function (STAT3 GOF) and in healthy donor CD8 +T cells

Author

Campos Duran, Jose S., primary, Sayed, Samir, additional, Conrey, Peyton E., additional, Hay, Ceire A., additional, Dalalo, Megan C., additional, Schmitt, Erica G., additional, Mauracher, Andrea A., additional, Romberg, Neil D., additional, Holland, Steven M., additional, Freeman, Alexandra F., additional, Bergerson, Jenna R.E., additional, Su, Helen C., additional, Leiding, Jennifer W., additional, Forbes, Lisa R., additional, Cooper, Megan A., additional, Vogel, Tiphanie P., additional, and Henrickson, Sarah E., additional

Published
2023
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41. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing

Author

Yu, Hui, Zhang, Victor Wei, Stray-Pedersen, Asbjørg, Hanson, Imelda Celine, Forbes, Lisa R., de la Morena, M. Teresa, Chinn, Ivan K., Gorman, Elizabeth, Mendelsohn, Nancy J., Pozos, Tamara, Wiszniewski, Wojciech, Nicholas, Sarah K., Yates, Anne B., Moore, Lindsey E., Berge, Knut Erik, Sorte, Hanne, Bayer, Diana K., ALZahrani, Daifulah, Geha, Raif S., Feng, Yanming, Wang, Guoli, Orange, Jordan S., Lupski, James R., Wang, Jing, and Wong, Lee-Jun

Published
2016
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46. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Author

Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D.O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie, and Cooper, Megan A.

Published
2015
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49. Burn Rehabilitation Therapists Competency Tool—Version 2: An Expansion to Include Long-Term Rehabilitation and Outpatient Care

Author

Parry, Ingrid, Forbes, Lisa, Lorello, David, Benavides, Lynne, Calvert, Catherine, Hsu, Shu-chuan Chen, Chouinard, Annick, Godleski, Matthew, Helm, Phala, Holavanahalli, Radha K., Kemp-Offenberg, Jennifer, Ruiz, Catherine E., Shon, Rachel, Schneider, Jeffrey C., Shetler, Melinda, Suman, Oscar E., and Nedelec, Bernadette

Published
2017
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