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15 results on '"Caldwell, Jason W"'

1. 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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2. 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

6. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Author

Cook, Sarah A., primary, Comrie, William A., additional, Poli, M. Cecilia, additional, Similuk, Morgan, additional, Oler, Andrew J., additional, Faruqi, Aiman J., additional, Kuhns, Douglas B., additional, Yang, Sheng, additional, Vargas-Hernández, Alexander, additional, Carisey, Alexandre F., additional, Fournier, Benjamin, additional, Anderson, D. Eric, additional, Price, Susan, additional, Smelkinson, Margery, additional, Abou Chahla, Wadih, additional, Forbes, Lisa R., additional, Mace, Emily M., additional, Cao, Tram N., additional, Coban-Akdemir, Zeynep H., additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Gibbs, Richard A., additional, Lupski, James R., additional, Orange, Jordan S., additional, Cuvelier, Geoffrey D. E., additional, Al Hassani, Moza, additional, Al Kaabi, Nawal, additional, Al Yafei, Zain, additional, Jyonouchi, Soma, additional, Raje, Nikita, additional, Caldwell, Jason W., additional, Huang, Yanping, additional, Burkhardt, Janis K., additional, Latour, Sylvain, additional, Chen, Baoyu, additional, ElGhazali, Gehad, additional, Rao, V. Koneti, additional, Chinn, Ivan K., additional, and Lenardo, Michael J., additional

Published
2020
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7. Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Author

Comrie, William A., primary, Poli, M. Cecilia, additional, Cook, Sarah A., additional, Similuk, Morgan, additional, Oler, Andrew J., additional, Faruqi, Aiman J., additional, Kuhns, Douglas B., additional, Yang, Sheng, additional, Carisey, Alexandre F., additional, Fournier, Benjamin, additional, Anderson, D. Eric, additional, Price, Susan, additional, Chahla, Wadih Abou, additional, Vargas-Hernandez, Alexander, additional, Forbes, Lisa R., additional, Mace, Emily M., additional, Cao, Tram N., additional, Coban-Akdemir, Zeynep H., additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Gibbs, Richard A., additional, Lupski, James R., additional, Orange, Jordan S., additional, Cuvelier, Geoffrey D.E., additional, Hassani, Moza Al, additional, Kaabi, Nawal AL, additional, Yafei, Zain Al, additional, Jyonouchi, Soma, additional, Raje, Nikita, additional, Caldwell, Jason W., additional, Huang, Yanping, additional, Burkhardt, Janis K., additional, Latour, Sylvain, additional, Chen, Baoyu, additional, ElGhazali, Gehad, additional, Rao, V. Koneti, additional, Chinn, Ivan K., additional, and Lenardo, Michael J., additional

Published
2019
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11. Rituximab therapy in a patient with low grade B-cell lymphoproliferative disease and concomitant acquired angioedema

Author

Kaur,Ravdeep, Williams,Aerik Anthony, Swift,Catherine Baker, Caldwell,Jason W, Kaur,Ravdeep, Williams,Aerik Anthony, Swift,Catherine Baker, and Caldwell,Jason W

Abstract

Ravdeep Kaur, Aerik Anthony Williams, Catherine Baker Swift, Jason W Caldwell Wake Forest University School of Medicine, Wake Forest University, Winston-Salem, NC, USA Abstract: Acquired angioedema is often associated with significant morbidity. An underlying lymphatic malignancy, autoimmune disorder, adenocarcinoma, or other malignancy may be present. Screening for these disorders should occur in all patients with acquired angioedema as treatment may result in resolution of angioedema. Keywords: complement, C1-INH deficiency, ecallantide, hemopathy

Published
2014

14. Rituximab therapy in a patient with low grade B-cell lympho proliferative disease and concomitant acquired angioedema.

Author

Kaur, Ravdeep, Williams, Aerik Anthony, Swift, Catherine Baker, and Caldwell, Jason W

Subjects
RITUXIMAB, PROLIFERATIVE vitreoretinopathy, ANGIONEUROTIC edema, PATIENTS, CANCER
Abstract

Acquired angioedema is often associated with significant morbidity. An underlying lymphatic malignancy, autoimmune disorder, adenocarcinoma, or other malignancy may be present. Screening for these disorders should occur in all patients with acquired angioedema as treatment may result in resolution of angioedema. [ABSTRACT FROM AUTHOR]

Published
2014
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15. Rituximab therapy in a patient with low grade B-cell lymphoproliferative disease and concomitant acquired angioedema.

Author

Kaur R, Williams AA, Swift CB, and Caldwell JW

Abstract

Acquired angioedema is often associated with significant morbidity. An underlying lymphatic malignancy, autoimmune disorder, adenocarcinoma, or other malignancy may be present. Screening for these disorders should occur in all patients with acquired angioedema as treatment may result in resolution of angioedema.

Published
2014
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