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2. 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

4. Contributors

Author

Abzug, Mark J., primary, Adderson, Elisabeth E., additional, Agarwal, Aastha, additional, Agwu, Allison L., additional, Albenberg, Lindsey, additional, Albert, Jonathan, additional, Alby, Kevin, additional, Aldrovandi, Grace M., additional, Allen, Upton D., additional, Alvarez-Hernndez, Gerardo, additional, Ampofo, Krow, additional, Anderson, Evan J., additional, Appiah, Grace D., additional, Ardura, Monica I., additional, Arnon, Stephen S., additional, Aronson, Naomi E., additional, Arvin, Ann M., additional, Ashkenazi, Shai, additional, Ashkenazi-Hoffnung, Liat, additional, Asturias, Edwin J., additional, Aukstuolis, Kestutis, additional, Badalyan, Vahe, additional, Baker, Carol J., additional, Balakrishnan, Karthik, additional, Barnett, Elizabeth D., additional, Bechtel, Kirsten, additional, Benitz, William E., additional, Berkovich, Rachel, additional, Berman, David M., additional, Bialek, Stephanie R., additional, Bijker, Else M., additional, Bizzarro, Matthew J., additional, Bloch, Karen C., additional, Bocchini, Joseph A., additional, Boyce, Thomas G., additional, Bradley, John S., additional, Bratcher, Denise F., additional, Braverman, Paula K., additional, Brook, Itzhak, additional, Brown, Kevin Edward, additional, Bryant, Kristina P., additional, Camacho-Gonzalez, Andres F., additional, Caete-Gibas, Connie F., additional, Cantey, Joseph B., additional, Cantey, Paul, additional, Cardemil, Cristina V., additional, Caserta, Mary T., additional, Castagnini, Luis A., additional, Cataldi, Jessica R., additional, Chadwick, Ellen Gould, additional, Chancey, Rebecca J., additional, Cherry, Cara C., additional, Chiang, Silvia S., additional, Choi, Mary, additional, Christenson, John C., additional, Coffin, Susan E., additional, Cohn, Amanda, additional, Contopoulos-Ioannidis, Despina G., additional, Conway, James H., additional, Cortese, Margaret M., additional, Creech, C. Buddy, additional, Crews, Jonathan D., additional, Curtis, Donna, additional, Curtis, Nigel, additional, Danziger-Isakov, Lara A., additional, Darville, Toni, additional, Dasch, Gregory A., additional, Daskalaki, Irini, additional, Davies, H. Dele, additional, Dawood, Fatimah S., additional, Day, J. Christopher, additional, Teresa de la Morena, M., additional, DeMuri, Gregory P., additional, Despommier, Dickson D., additional, Dodson, Daniel S., additional, Dolgner, Stephen J., additional, Dunn, Clinton, additional, Dyal, Jonathan, additional, Edwards, Kathryn M., additional, Edwards, Morven S., additional, Eichenfield, Dawn Z., additional, Eichenfield, Lawrence F., additional, Elston, Dirk M., additional, Emerson, Beth, additional, Enane, Leslie A., additional, Ephros, Moshe, additional, Erdem, Guliz, additional, Eremeeva, Marina E., additional, Esposito, Douglas H., additional, Farley, Monica M., additional, Feingold, Anat R., additional, Feja, Kristina N., additional, Finn, Adam, additional, Fischer, Marc, additional, Fisher, Brian T., additional, Fisher, Randall G., additional, Flynn, Patricia Michele, additional, Foster, Monique A., additional, Fox, LeAnne M., additional, Frank, Michael M., additional, Fredrick, Douglas R., additional, Frenck, Robert W., additional, Gaensbauer, James, additional, Gans, Hayley A., additional, Gauthier, Gregory M., additional, Gavigan, Patrick, additional, Gerber, Jeffrey S., additional, Gernez, Yael, additional, Gigliotti, Francis, additional, Gilger, Mark A., additional, Glaser, Carol A., additional, Gould, Jane M., additional, Graziano, James, additional, Green, Amanda M., additional, Green, Michael, additional, Griffin, Daniel, additional, Griffin, Patricia M., additional, Griffith, David C., additional, Gupta, Piyush, additional, Gutelius, Bruce J., additional, Gutman, Julie R., additional, Hall, Aron J., additional, Hamdy, Rana F., additional, Han, Jin-Young, additional, Handy, Lori K., additional, Hanisch, Benjamin, additional, Harper, Marvin B., additional, Harris, Aaron M., additional, Harrison, Christopher J., additional, Haslam, David B., additional, Haston, Julia C., additional, Hawkes, Sarah.J., additional, Heald-Sargent, Taylor, additional, Hendley, J. Owen, additional, Hersh, Adam L., additional, Hilinski, Joseph A., additional, Hills, Susan L., additional, Hong, David K., additional, Hotez, Peter J., additional, Hsu, Katherine K., additional, Huang, Felicia Scaggs, additional, Hunstad, David A., additional, Hunt, W. Garrett, additional, Hwang, Loris Y., additional, Ilboudo, Christelle M., additional, Jaggi, Preeti, additional, Jean, Sophonie, additional, Jhaveri, Ravi, additional, Jirk-Pomajbkov, Kateina, additional, Kadry, Nadia A., additional, Kamb, Mary L., additional, Kapadia, Ronak K., additional, Katz, Ben Z., additional, Katz, Sophie E., additional, Kaur, Ishminder, additional, Kersh, Gilbert J., additional, Khan, Muhammad Ali, additional, Khurana, Ananta, additional, Kimberlin, David W., additional, Klein, Bruce, additional, Kobayashi, Miwako, additional, Kociolek, Larry K., additional, Koh, Andrew Y., additional, Kotloff, Karen L., additional, Kroger, Andrew T., additional, Kronman, Matthew P., additional, Lalor, Leah, additional, Lauren, Christine T., additional, Leber, Amy, additional, Leshem, Eyal, additional, Lewis, David B., additional, Livingston, Robyn A., additional, Llata, Eloisa, additional, Lloyd, Kevin, additional, Loh, Katrina, additional, Long, Sarah S., additional, Lopman, Benjamin A., additional, Lucero, Yalda C., additional, Lugo, Debra J., additional, Lujn-Zilbermann, Jorge, additional, Maldonado, Yvonne A., additional, Manaloor, John J., additional, Manthiram, Kalpana, additional, Martin, Stacey W., additional, Mathew, Roshni, additional, Mazzulli, Tony, additional, McFarland, Elizabeth J., additional, McGann, Kathleen A., additional, McNamara, Lucy A., additional, Meislich, Debrah, additional, Meissner, H. Cody, additional, Mejias, Asuncion, additional, Mertsola, Jussi, additional, Messacar, Kevin, additional, Mhaissen, Mohammad Nael, additional, Michaels, Marian G., additional, Miller, Melissa B., additional, Miller-Handley, Hilary, additional, Mintz, Eric, additional, Mohan, Parvathi, additional, Montgomery, Susan P., additional, Montoya, Jose G., additional, Moorman, Anne C., additional, Moro, Pedro L., additional, Moscicki, Anna-Barbara, additional, Muller, William J., additional, Myers, Angela L., additional, Nadel, Simon, additional, Nayak, Jennifer Lynn, additional, Neely, Michael Noel, additional, Neil, Karen P., additional, Nelson, Christina A., additional, Nelson, Noele P., additional, Nichols, Megin, additional, Nicholson, William, additional, Nopper, Amy Jo, additional, Norton, Laura E., additional, Ochoa, Theresa J., additional, Olarte, Liset, additional, Onarecker, Timothy R., additional, Orenstein, Walter A., additional, ORyan, Miguel, additional, Otto, William R., additional, Ouellette, Christopher P., additional, Paddock, Christopher D., additional, Palazzi, Debra L., additional, Panuganti, Suresh Kumar, additional, Pappas, Diane E., additional, Paret, Michal, additional, Pastula, Daniel M., additional, Patterson, Thomas F., additional, Petersen, Brett W., additional, Petrosyan, Mikael, additional, Pickering, Larry K., additional, Pindyck, Talia, additional, Pinninti, Swetha, additional, Pittet, Laure F., additional, Planet, Paul J., additional, Pollard, Andrew J., additional, Posfay-Barbe, Klara M., additional, Poulsen, Casper S., additional, Poutanen, Susan M., additional, Powers, Ann M., additional, Prasanphanich, Nina Salinger, additional, Pritt, Bobbi S., additional, Prober, Charles G., additional, Puar, Neha, additional, Quilter, Laura A.S., additional, Ramilo, Octavio, additional, Rao, Suchitra, additional, Ratner, Adam J., additional, Rawstron, Sarah A., additional, Read, Jennifer S., additional, Relich, Ryan F., additional, Reller, Megan E., additional, Robinson, Candice L., additional, Romero, Jos R., additional, Rosen, David A., additional, Ross, Shannon A., additional, Rours, G. Ingrid J.G., additional, Rowe, Peter C., additional, Rowley, Anne H., additional, Rubin, Lorry G., additional, Ryan, Edward T., additional, Sacharok, Alexandra, additional, Sandora, Thomas J., additional, Sapp, Sarah G.H., additional, Sardana, Kabir, additional, Sauberan, Jason B., additional, Schaffzin, Joshua K., additional, Schillie, Sarah, additional, Schuster, Jennifer E., additional, Schwartz, Kevin L., additional, Sederdahl, Bethany K., additional, Serpa-Alvarez, Jose, additional, Shah, Kara N., additional, Shah, Samir S., additional, Shaikh, Nader, additional, Shane, Andi L., additional, Shapiro, Eugene D., additional, Shaw, Jana, additional, Shetty, Avinash K., additional, Shope, Timothy R., additional, Dairiki Shortliffe, Linda M., additional, Shulman, Stanford T., additional, Shust, Gail F., additional, Siberry, George Kelly, additional, Siegel, Jane D., additional, Siegel, Robert David, additional, Simonsen, Kari A., additional, Singh, Upinder, additional, Smith, Christiana, additional, Smith, Lauren L., additional, Song, Eunkyung, additional, Souder, Emily, additional, Spearman, Paul, additional, St. Geme, Joseph W., additional, Staat, Mary Allen, additional, Staples, J. Erin, additional, Starke, Jeffrey R., additional, Statler, Victoria A., additional, Steinbach, William J., additional, Stensvold, Christen Rune, additional, Stokes, Erin K., additional, Stoner, Bradley P., additional, Storch, Gregory A., additional, Straily, Anne, additional, Sullivan, Kathleen E., additional, Swanson, Douglas S., additional, Tanz, Robert R., additional, Taormina, Gillian, additional, Tate, Jacqueline E., additional, Taveras, Jeanette, additional, Tebruegge, Marc, additional, Teshale, Eyasu H., additional, Thompson, George R., additional, Thompson-Stone, Robert, additional, Thomsen, Isaac, additional, Thomson, Richard B., additional, Thorell, Emily A., additional, Tien, Vivian, additional, Tobin, Nicole H., additional, Toltzis, Philip, additional, Treat, James, additional, Troy, Stephanie B., additional, Van Dvke, Russell B., additional, Vaz, Louise Elaine, additional, Vijayan, Vini, additional, Vodzak, Jennifer, additional, Wagner, Thor A., additional, Wald, Ellen R., additional, Wallihan, Rebecca, additional, Wang, Huanyu, additional, Wangu, Zoon, additional, Washam, Matthew, additional, Waters, Valerie, additional, Watson, Joshua R., additional, Weatherhead, Jill E., additional, Weinberg, Geoffrey A., additional, Weng, Mark K., additional, Wiederhold, Nathan P., additional, Wiesenfeld, Harold C., additional, Williams, Cydni, additional, Williams, John V., additional, Willoughby, Rodney E., additional, Wittler, Robert R., additional, Wood, James B., additional, Woods, Charles Reece, additional, Workowski, Kimberly A., additional, Wright, Terry W., additional, Wu, Hsi-Yang, additional, Xu, Huan, additional, Yagupsky, Pablo, additional, Yi, Jumi, additional, Yoder, Jonathan, additional, Young, Edward J., additional, Zaenglein, Andrea L., additional, Zimmermann, Petra, additional, and Zong, Wenjing, additional

Published
2023
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5. 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

6. An essential role for the Zn2+ transporter ZIP7 in B cell development

Author

Anzilotti, Consuelo, Swan, David J, Boisson, Bertrand, Deobagkar-Lele, Mukta, Oliveira, Catarina, Chabosseau, Pauline, Engelhardt, Karin R, Xu, Xijin, Chen, Rui, Alvarez, Luis, Berlinguer-Palmini, Rolando, Bull, Katherine R, Cawthorne, Eleanor, Cribbs, Adam P, Crockford, Tanya L, Dang, Tarana Singh, Fearn, Amy, Fenech, Emma J, de Jong, Sarah J, Lagerholm, B Christoffer, Ma, Cindy S, Sims, David, van den Berg, Bert, Xu, Yaobo, Cant, Andrew J, Kleiner, Gary, Leahy, T Ronan, de la Morena, M Teresa, Puck, Jennifer M, Shapiro, Ralph S, van der Burg, Mirjam, Chapman, J Ross, Christianson, John C, Davies, Benjamin, McGrath, John A, Przyborski, Stefan, Santibanez Koref, Mauro, Tangye, Stuart G, Werner, Andreas, Rutter, Guy A, Padilla-Parra, Sergi, Casanova, Jean-Laurent, Cornall, Richard J, Conley, Mary Ellen, and Hambleton, Sophie

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Genetics, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Agammaglobulinemia, Animals, B-Lymphocytes, Cation Transport Proteins, Child, Preschool, Cytosol, Disease Models, Animal, Endoplasmic Reticulum, Female, Gene Expression Profiling, Humans, Infant, Male, Mice, Inbred C57BL, Mice, Transgenic, Mutation, Pedigree, Zinc, Immunology, Biochemistry and cell biology
Abstract

Despite the known importance of zinc for human immunity, molecular insights into its roles have remained limited. Here we report a novel autosomal recessive disease characterized by absent B cells, agammaglobulinemia and early onset infections in five unrelated families. The immunodeficiency results from hypomorphic mutations of SLC39A7, which encodes the endoplasmic reticulum-to-cytoplasm zinc transporter ZIP7. Using CRISPR-Cas9 mutagenesis we have precisely modeled ZIP7 deficiency in mice. Homozygosity for a null allele caused embryonic death, but hypomorphic alleles reproduced the block in B cell development seen in patients. B cells from mutant mice exhibited a diminished concentration of cytoplasmic free zinc, increased phosphatase activity and decreased phosphorylation of signaling molecules downstream of the pre-B cell and B cell receptors. Our findings highlight a specific role for cytosolic Zn2+ in modulating B cell receptor signal strength and positive selection.

Published
2019

9. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.

Author

de la Morena, M Teresa, Leonard, David, Torgerson, Troy R, Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A, Kanariou, Maria, Damrongwatanasuk, Rongras, Kuo, Caroline Y, Dvorak, Christopher C, Meyts, Isabelle, Chen, Karin, Kobrynski, Lisa, Kapoor, Neena, Richter, Darko, DiGiovanni, Daniela, Dhalla, Fatima, Farmaki, Evangelia, Speckmann, Carsten, Español, Teresa, Shcherbina, Anna, Hanson, Imelda Celine, Litzman, Jiri, Routes, John M, Wong, Melanie, Fuleihan, Ramsay, Seneviratne, Suranjith L, Small, Trudy N, Janda, Ales, Bezrodnik, Liliana, Seger, Reinhard, Raccio, Andrea Gomez, Edgar, J David M, Chou, Janet, Abbott, Jordan K, van Montfrans, Joris, González-Granado, Luis Ignacio, Bunin, Nancy, Kutukculer, Necil, Gray, Paul, Seminario, Gisela, Pasic, Srdjan, Aquino, Victor, Wysocki, Christian, Abolhassani, Hassan, Dorsey, Morna, Cunningham-Rundles, Charlotte, Knutsen, Alan P, Sleasman, John, Costa Carvalho, Beatriz Tavares, Condino-Neto, Antonio, Grunebaum, Eyal, Chapel, Helen, Ochs, Hans D, Filipovich, Alexandra, Cowan, Mort, Gennery, Andrew, Cant, Andrew, Notarangelo, Luigi D, and Roifman, Chaim M

Subjects
Humans, Hematopoietic Stem Cell Transplantation, Proportional Hazards Models, Retrospective Studies, Cohort Studies, Follow-Up Studies, Time, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Hyper-IgM Immunodeficiency Syndrome, Young Adult, Kaplan-Meier Estimate, CD40 ligand, Karnofsky/Lansky scores, X-linked hyper-IgM syndrome, defects in class-switch recombination, hematopoietic cell transplantation, long-term outcomes, primary immunodeficiency, Pediatric, Clinical Research, Transplantation, Inflammatory and immune system, Good Health and Well Being, Immunology, Allergy
Abstract

BackgroundX-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell transplantation (HCT) has been considered a curative therapy, but the procedure has inherent complications and might not be available for all patients.ObjectivesWe sought to collect data on the clinical presentation, treatment, and follow-up of a large sample of patients with XHIGM to (1) compare long-term overall survival and general well-being of patients treated with or without HCT along with clinical factors associated with mortality and (2) summarize clinical practice and risk factors in the subgroup of patients treated with HCT.MethodsPhysicians caring for patients with primary immunodeficiency diseases were identified through the Jeffrey Modell Foundation, United States Immunodeficiency Network, Latin American Society for Immunodeficiency, and Primary Immune Deficiency Treatment Consortium. Data were collected with a Research Electronic Data Capture Web application. Survival from time of diagnosis or transplantation was estimated by using the Kaplan-Meier method compared with log-rank tests and modeled by using proportional hazards regression.ResultsTwenty-eight clinical sites provided data on 189 patients given a diagnosis of XHIGM between 1964 and 2013; 176 had valid follow-up and vital status information. Sixty-seven (38%) patients received HCT. The average follow-up time was 8.5 ± 7.2 years (range, 0.1-36.2 years). No difference in overall survival was observed between patients treated with or without HCT (P = .671). However, risk associated with HCT decreased for diagnosis years 1987-1995; the hazard ratio was significantly less than 1 for diagnosis years 1995-1999. Liver disease was a significant predictor of overall survival (hazard ratio, 4.9; 95% confidence limits, 2.2-10.8; P

Published
2017

11. ITK Deficiency

Author

Fox, Thomas G., de la Morena, M Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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12. Interleukin-21 Deficiency

Author

Nelson, Robert P., Chinen, Javier, de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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13. IL-21 Receptor (IL-21R) Deficiency

Author

Nelson, Robert P., de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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14. IKBKB Deficiency

Author

Nelson, Robert P., de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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17. CD3d, e and z Deficiencies

Author

Nelson, Robert P., de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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18. CD8 Alpha (CD8A) Deficiency

Author

Nelson, Robert P., de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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19. Caspase Recruitment Domain 11, CARD11

Author

Nelson, Robert P., de la Morena, M Teresa, Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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20. DOCK8 Deficiency

Author

Nelson, Robert P., de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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22. TNFRSF4 (OX40) Deficiency

Author

Nelson, Robert P., de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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24. MHC Class II, Deficiency of

Author

Kuo, Caroline Y., de la Morena, M Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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25. NF-Kappa B-Inducing Kinase (NIK)

Author

Nelson, Robert P., de la Morena, M Teresa, Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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27. Mammalian Sterile 20-Like 1 (MST1) Deficiency

Author

Nelson, Robert P., de la Morena, M Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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28. Omenn Syndrome (OS)

Author

Nelson, Robert P., de la Morena, M. Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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29. MALT1 Deficiency

Author

Nelson, Robert P., de la Morena, M Teresa, Section editor, Nelson Jr, R. P., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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30. Ras Homolog Family Member H (RHOH) Deficiency

Author

Nelson, Robert P., de la Morena, M Teresa, Section editor, Nelson, R. P., Jr, Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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33. Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.

Author

Gall, Alevtina, Bosticardo, Marita, Ma, Stacey, Chen, Karin, Amini, Kayla, Pala, Francesca, Delmonte, Ottavia M., Wenger, Tara, Bamshad, Michael, Sleasman, John, Blessing, Matthew, van Oers, Nicolai S. C., Notarangelo, Luigi D., and de la Morena, M. Teresa

Subjects
TRANSCRIPTION factors, T cell differentiation, T cell receptors, T cells, KILLER cells, LYMPHOPENIA
Abstract

Pathogenic variants in the transcription factor TP63 are associated with clinically overlapping syndromes including ectrodactyly-ectodermal dysplasia clefting (EEC) and ankyloblepharon-ectodermal defects-cleft lip/palate (AEC). T cell lymphopenia has rarely been described in individuals with TP63 variants and the cause of the T cell defect is unclear. Here, we present a case of a female infant born with TP63-related syndrome and profound T cell lymphopenia, first uncovered through newborn screening. Flow cytometry analysis revealed low CD4+ naïve T cells and nearly absent CD8+ T cells with intact B and NK cell compartments. A de novo heterozygous pathogenic variant c.1040 G>A (C347Y) in exon 8 of TP63 was identified. An artificial thymic organoid system, to assess the intrinsic ability of the patient's hematopoietic cells to develop into T cells, was performed twice using separate peripheral blood samples. Ex vivo T cell differentiation was evident with the artificial organoid system, suggesting that a thymic stromal cell defect may be the cause of the T cell lymphopenia. Consistent with this, interrogation of publicly available data indicated that TP63 expression in the human thymus is restricted to thymic epithelial cells. Based on these data, congenital athymia was suspected and the patient received an allogenic cultured thymus tissue implant (CTTI). This is the first report of suspected congenital athymia and attempted treatment with CTTI associated with TP63 variant. At 9 months post-implant, peripheral lymphocyte analysis revealed measurable T cell receptor excision circles and presence of CD4+ recent thymic emigrants suggestive of early thymopoiesis. She will continue regular monitoring to ensure restoration of T cell immunity. [ABSTRACT FROM AUTHOR]

Published
2024
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34. ZAP70 Deficiency (OMIM # 176947)

Author

Kobrynski, Lisa J., de la Morena, M Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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35. MHC Class I, A Deficiency of

Author

Kuo, Caroline Y., de la Morena, M Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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37. MAGT1 Deficiency

Author

Fox, Thomas G., de la Morena, M Teresa, Section editor, Nelson, Robert P., Jr., Section editor, Orange, Jordan Scott, editor, Chinen, Javier, editor, MacKay, Ian R., Series Editor, and Rose, Noel R., Series Editor

Published
2020
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38. FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

Author

Du, Qiumei, Huynh, Larry K., Coskun, Fatma, Molina, Erika, King, Matthew A., Raj, Prithvi, Khan, Shaheen, Dozmorov, Igor, Seroogy, Christine M., Wysocki, Christian A., Padron, Grace T., Yates, Tyler R., Markert, M. Louise, de la Morena, M. Teresa, and van Oers, Nicolai S.C.

Subjects
Thermo Fisher Scientific Inc., Analysis, Genetic aspects, Cell differentiation -- Analysis -- Genetic aspects, Transcription (Genetics) -- Analysis -- Genetic aspects, Scientific equipment industry -- Analysis -- Genetic aspects, T cells -- Analysis -- Genetic aspects, DNA, Technology
Abstract

Introduction The development of T cells expressing T cell receptors (TCRs) bearing a precise specificity for peptides embedded in self-HLA (MHC) molecules occurs in the thymus. At this site, T [...], We report on 2 patients with compound heterozygous mutations in forkhead box N1 (FOXN1), a transcription factor essential for thymic epithelial cell (TEC) differentiation. TECs are critical for T cell development. Both patients had a presentation consistent with [T.sup.-/lo][B.sup.+][NK.sup.+] SCID, with normal hair and nails, distinct from the classic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations. To understand the basis of this phenotype and the effects of the mutations on FOXN1, we generated mice using CRISPR-Cas9 technology to genocopy mutations in 1 of the patients. The mice with the Foxn1 compound heterozygous mutations had thymic hypoplasia, causing a [T.sup.-][B.sup.+][NK.sup.+] SCID phenotype, whereas the hair and nails of these mice were normal. Characterization of the functional changes due to the Foxn1 mutations revealed a 5-amino acid segment at the end of the DNA-binding domain essential for the development of TECs but not keratinocytes. The transcriptional activity of this Foxn1 mutant was partly retained, indicating a region that specifies TEC functions. Analysis of an additional 9 FOXN1 mutations identified in multiple unrelated patients revealed distinct functional consequences contingent on the impact of the mutation on the DNA-binding and transactivation domains of FOXN1.

Published
2019
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39. Cytoplasmic RNA quality control failure engages mTORCI-mediated autoinflammatory disease

Author

Yang, Kun, Han, Jie, Asada, Mayumi, Gill, Jennifer G., Park, Jason Y., Sathe, Meghana N., Gattineni, Jyothsna, Wright, Tracey, Wysocki, Christian A., de la Morena, M. Teresa, Garza, Luis A., and Yan, Nan

Subjects
Development and progression, Genetic aspects, Health aspects, Autoimmune diseases -- Development and progression -- Genetic aspects, Cytoplasm -- Genetic aspects -- Health aspects, Inflammation -- Development and progression -- Genetic aspects, Protein kinases -- Genetic aspects -- Health aspects, RNA -- Health aspects
Abstract

Introduction Recognition of microbial nucleic acids by the innate immune system and activation of the type I interferon (IFN) response are fundamental mechanisms of host defense against infection. Inappropriate activation [...], Inborn errors of nucleic acid metabolism often cause aberrant activation of nucleic acid sensing pathways, leading to autoimmune or autoinflammatory diseases. The SKIV2L RNA exosome is cytoplasmic RNA degradation machinery that was thought to be essential for preventing the self-RNA-mediated interferon (IFN) response. Here, we demonstrate the physiological function of SKIV2L in mammals. We found that Skiv2l deficiency in mice disrupted epidermal and T cell homeostasis in a cell-intrinsic manner independently of IFN. Skiv2l-deficient mice developed skin inflammation and hair abnormality, which were also observed in a SKIV2L-deficient patient. Epidermis-specific deletion of Skiv2l caused hyperproliferation of keratinocytes and disrupted epidermal stratification, leading to impaired skin barrier with no appreciable IFN activation. Moreover, Skiv2l-deficient T cells were chronically hyperactivated and these T cells attacked lesional skin as well as hair follicles. Mechanistically, SKIV2L loss activated the mTORCI pathway in both keratinocytes and T cells. Both systemic and topical rapamycin treatment of Skiv2l-deficient mice ameliorated epidermal hyperplasia and skin inflammation. Together, we demonstrate that mTORCI, a classical nutrient sensor, also senses cytoplasmic RNA quality control failure and drives autoinflammatory disease. We also propose SKIV2L-associated trichohepatoenteric syndrome (THES) as a new mTORopathy for which sirolimus may be a promising therapy.

Published
2022
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42. 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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50. Methylotroph infections and chronic granulomatous disease

Author

Falcone, E. Liana, Petts, Jennifer R., Fasano, Mary Beth, Ford, Bradley, Nauseef, William M., Neves, Joao Farela, Simoes, Maria Joao, Tierce, Millard L., IV., de la Morena, M. Teresa, Greenberg, David E., Zerbe, Christa S., Zelazny, Adrian M., and Holland, Steven M.

Subjects
Health aspects, Chronic granulomatous disease -- Health aspects, RNA -- Health aspects
Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent infections of the lung, skin, lymph nodes, and liver, as well as granulomatous inflammation affecting those organs and hollow [...]

Published
2016
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