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1دورية أكاديمية
المؤلفون: Pai, Sung-Yun, Kapoor, Neena, Satter, Lisa, Buckley, Rebecca, OReilly, Richard, Chandra, Sharat, Bednarski, Jeffrey, Williams, Olatundun, Rayes, Ahmad, Moore, Theodore, Ebens, Christen, Davila Saldana, Blachy, Petrovic, Aleksandra, Chellapandian, Deepak, Cuvelier, Geoffrey, Vander Lugt, Mark, Caywood, Emi, Chandrakasan, Shanmuganathan, Eissa, Hesham, Goldman, Frederick, Shereck, Evan, Aquino, Victor, Desantes, Kenneth, Madden, Lisa, Miller, Holly, Yu, Lolie, Broglie, Larisa, Gillio, Alfred, Shah, Ami, Knutsen, Alan, Andolina, Jeffrey, Joshi, Avni, Szabolcs, Paul, Kapadia, Malika, Martinez, Caridad, Parrot, Roberta, Sullivan, Kathleen, Prockop, Susan, Abraham, Roshini, Thakar, Monica, Leiding, Jennifer, Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Pulsipher, Michael, Griffith, Linda, Notarangelo, Luigi, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, Kohn, Donald
المصدر: Journal of Allergy and Clinical Immunology. 151(2)
مصطلحات موضوعية: Omenn syndrome, SCID, Severe combined immunodeficiency, leaky/atypical SCID, newborn screening, typical SCID, Infant, Newborn, Humans, Infant, Severe Combined Immunodeficiency, Retrospective Studies, Prospective Studies, Homeodomain Proteins
الوصف: BACKGROUND: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortiums (PIDTCs) prospective and retrospective studies of SCID. OBJECTIVE: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. METHODS: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. RESULTS: According to PIDTC 2022 Definitions, 18 of 353 patients eligible per 2014 Criteria were considered not to have SCID, whereas 11 of 26 patients ineligible per 2014 Criteria were determined to have SCID. Of note, very low numbers of autologous T cells (
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2661m4m2Test
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2دورية أكاديمية
المؤلفون: Chung, Wendy, Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise, Suchy, Sharon, Bergtrup, Amber, Langley, Katherine, Amendola, Laura, Boyd, Brenna, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian, Coffey, Alison, Devaney, Joseph, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsey, Gyimah, Awura, Hernan, Rebecca, Hofherr, Sean, Hruska, Kathleen, Hu, Zhanzhi, Jeanne, Mederic, Jin, Guanjun, Johnson, Aaron, Kavus, Haluk, Leibel, Rudolph, McWalter, Kirsty, Monaghan, Kristin, Soler, Nicole Pimentel, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shapiro, Natasha, Sicko, Robert, Storm, Samuel, Torene, Rebecca, Williams, Olatundun, Wynn, Julia, Taft, Ryan, Kruszka, Paul, Caggana, Michele
المصدر: Genetics in Medicine Open ; volume 2, page 101369 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101369Test
https://api.elsevier.com/content/article/PII:S2949774424005156?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424005156?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Williams, Olatundun, Hu, Liping, Huang, Weiqi, Patel, Priyam, Bartom, Elizabeth T., Bei, Ling, Hjort, Elizabeth, Hijiya, Christina, Eklund, Elizabeth A.
المساهمون: National Institutes of Health, US Department of Veterans Affairs, Rally Foundation
المصدر: Journal of Biological Chemistry ; volume 299, issue 7, page 104867 ; ISSN 0021-9258
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1016/j.jbc.2023.104867Test
https://api.elsevier.com/content/article/PII:S0021925823018951?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925823018951?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Thakar, Monica S, Logan, Brent R, Puck, Jennifer M, Dunn, Elizabeth A, Buckley, Rebecca H, Cowan, Morton J, O'Reilly, Richard J, Kapoor, Neena, Satter, Lisa Forbes, Pai, Sung-Yun, Heimall, Jennifer, Chandra, Sharat, Ebens, Christen L, Chellapandian, Deepak, Williams, Olatundun, Burroughs, Lauri M, Saldana, Blachy Davila, Rayes, Ahmad, Madden, Lisa M, Chandrakasan, Shanmuganathan, Bednarski, Jeffrey J, DeSantes, Kenneth B, Cuvelier, Geoffrey D E, Teira, Pierre, Gillio, Alfred P, Eissa, Hesham, Knutsen, Alan P, Goldman, Frederick D, Aquino, Victor M, Shereck, Evan B, Moore, Theodore B, Caywood, Emi H, Lugt, Mark T Vander, Rozmus, Jacob, Broglie, Larisa, Yu, Lolie C, Shah, Ami J, Andolina, Jeffrey R, Liu, Xuerong, Parrott, Roberta E, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad A, Kapadia, Malika, Jyonouchi, Soma C, Sullivan, Kathleen E, Bleesing, Jack J, Chaudhury, Sonali, Petrovic, Aleksandra, Keller, Michael D
المصدر: The Lancet ; volume 402, issue 10396, page 129-140 ; ISSN 0140-6736
الإتاحة: https://doi.org/10.1016/s0140-6736Test(23)00731-6
https://api.elsevier.com/content/article/PII:S0140673623007316?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0140673623007316?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Dvorak, Christopher C., Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Cowan, Morton J., Pai, Sung-Yun, Kapoor, Neena, Satter, Lisa Forbes, Buckley, Rebecca H., O’Reilly, Richard J., Chandra, Sharat, Bednarski, Jeffrey J., Williams, Olatundun, Rayes, Ahmad, Moore, Theodore B., Ebens, Christen L., Davila Saldana, Blachy J., Petrovic, Aleksandra, Chellapandian, Deepak, Cuvelier, Geoffrey D.E., Vander Lugt, Mark T., Caywood, Emi H., Chandrakasan, Shanmuganathan, Eissa, Hesham, Goldman, Frederick D., Shereck, Evan, Aquino, Victor M., Desantes, Kenneth B., Madden, Lisa M., Miller, Holly K., Yu, Lolie, Broglie, Larisa, Gillio, Alfred, Shah, Ami J., Knutsen, Alan P., Andolina, Jeffrey P., Joshi, Avni Y., Szabolcs, Paul, Kapadia, Malika, Martinez, Caridad A., Parrot, Roberta E., Sullivan, Kathleen E., Prockop, Susan E., Abraham, Roshini S., Thakar, Monica S., Leiding, Jennifer W., Kohn, Donald B., Pulsipher, Michael A., Griffith, Linda M., Notarangelo, Luigi D.
المصدر: Journal of Allergy and Clinical Immunology ; volume 151, issue 2, page 547-555.e5 ; ISSN 0091-6749
مصطلحات موضوعية: Immunology, Immunology and Allergy
الإتاحة: https://doi.org/10.1016/j.jaci.2022.10.021Test
https://api.elsevier.com/content/article/PII:S0091674922014786?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0091674922014786?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Garcia, Maria E Lopez, Lieb, Kristin, ZhenZhen, Jin, Bhatia, Monica, George, Diane, Garvin, James, Williams, Olatundun, Broglie, Larisa, Satwani, Prakash
المصدر: Transplantation and Cellular Therapy ; volume 30, issue 2, page S349 ; ISSN 2666-6367
مصطلحات موضوعية: Transplantation, Cell Biology, Hematology, Molecular Medicine, Immunology and Allergy
الإتاحة: https://doi.org/10.1016/j.jtct.2023.12.488Test
https://api.elsevier.com/content/article/PII:S2666636723022236?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666636723022236?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Dvorak, Christopher C., Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Cowan, Morton J., Pai, Sung-Yun, Kapoor, Neena, Satter, Lisa Forbes, Buckley, Rebecca H., O'Reilly, Richard J., Chandra, Sharat, Bednarski, Jeffrey J., Williams, Olatundun, Rayes, Ahmad, Moore, Theodore B., Ebens, Christen L., Davila Saldana, Blachy J., Petrovic, Aleksandra, Chellapandian, Deepak, Cuvelier, Geoffrey D. E., Vander Lugt, Mark T., Caywood, Emi H., Chandrakasan, Shanmuganathan, Eissa, Hesham, Goldman, Frederick D., Shereck, Evan, Aquino, Victor M., Desantes, Kenneth B., Yu, Lolie, al, et
المصدر: School of Medicine Faculty Publications
مصطلحات موضوعية: leaky/atypical SCID, newborn screening, Omenn syndrome, SCID, Severe combined immunodeficiency, typical SCID, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diagnosis, Pediatrics
الوصف: Background: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of SCID. Objective: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. Methods: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. Results: According to PIDTC 2022 Definitions, 18 of 353 patients eligible per 2014 Criteria were considered not to have SCID, whereas 11 of 26 patients ineligible per 2014 Criteria were determined to have SCID. Of note, very low numbers of autologous T cells (< 0.05 × 10(9)/L) characterized typical SCID under the 2022 Definitions. Pathogenic variant(s) in SCID-associated genes was identified in 93% of patients, with 7 genes (IL2RG, RAG1, ADA, IL7R, DCLRE1C, JAK3, and RAG2) accounting for 89% of typical SCID. Three genotypes (RAG1, ADA, and RMRP) accounted for 57% of cases of leaky/atypical SCID; there were 13 other rare genotypes. Patients with leaky/atypical SCID were more likely to be diagnosed at more than age 1 year than those with typical SCID lacking maternal T cells: 20% versus 1% (P < .001). Although repeat testing proved important, an initial CD3 T-cell count of less than 0.05 × 10(9)/L differentiated cases of typical SCID lacking maternal cells from leaky/atypical SCID: 97% versus 7% (P < .001). Conclusions: The PIDTC 2022 Definitions describe SCID and its subtypes more precisely than before, facilitating analyses of SCID characteristics and outcomes.
وصف الملف: application/pdf
العلاقة: https://digitalscholar.lsuhsc.edu/som_facpubs/2153Test; https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/3154/viewcontent/TheDiagnosisOfSevereCombinedImmunodeficiencyImplementationOfThePIDTC_2023.pdfTest
الإتاحة: https://doi.org/10.1016/j.jaci.2022.10.021Test
https://digitalscholar.lsuhsc.edu/som_facpubs/2153Test
https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/3154/viewcontent/TheDiagnosisOfSevereCombinedImmunodeficiencyImplementationOfThePIDTC_2023.pdfTest -
8دورية أكاديمية
المؤلفون: Eissa, Hesham, Thakar, Monica S., Shah, Ami J, Buckley, Rebecca H., Logan, Brent, Griffith, Linda M., Dong, Huaying, O’Reilly, Richard J., Kapoor, Neena, Satter, Lisa Forbes, Chandra, Sharat, Bleesing, Jack J., Kapadia, Malika, Parrott, Roberta E, Chandrakasan, Shanmuganathan, Bednarski II, Jeffrey J., Jyonouchi, Soma, Madden, Lisa M., Rayes, Ahmad, Ebens, Christen L., Teira, Pierre, Dávila Saldaña, Blachy J, Burroughs, Lauri M., Prockop, Susan E., Williams, Olatundun, Chellapandian, Deepak, Gillio, Alfred P., Goldman, Frederick, Malech, Harry L., DeSantes, Kenneth, Cuvelier, Geoff D.E., Rozmus, Jacob, Quinones, Ralph, Yu, Lolie C., Broglie, Larisa, Aquino, Victor, Shereck, Evan, Moore, Theodore B., Martinez, Caridad, Vander Lugt, Mark T., Leiding, Jennifer W., Torgerson, Troy, Pai, Sung-Yun, Pulsipher, Mike A., Notarangelo, Luigi D., Puck, Jennifer, Dvorak, Christopher C., Haddad, Elie, Cowan, Morton J., Heimall, Jennifer
المصدر: Transplantation and Cellular Therapy ; volume 28, issue 3, page S339-S340 ; ISSN 2666-6367
مصطلحات موضوعية: Transplantation, Cell Biology, Hematology, Molecular Medicine, Immunology and Allergy
الإتاحة: https://doi.org/10.1016/s2666-6367Test(22)00597-8
https://api.elsevier.com/content/article/PII:S2666636722005978?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666636722005978?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Arnold, Danielle E., Parikh, Suhag, Logan, Brent, Marsh, Rebecca, Griffith, Linda M., Wu, Ruizhe, Mallhi, Kanwaldeep, Chellapandian, Deepak, Si, Stephanie, Grunebaum, Eyal, Broglie, Larisa, Prasad, Vinod K., Heimall, Jennifer, Bunin, Nancy J., Teira, Pierre, Touzot, Fabien, Burroughs, Lauri M., Petrovic, Aleksandra, Bleesing, Jack J., Chandra, Sharat, Kapoor, Neena, Dara, Jasmeen, Dorsey, Morna, Williams, Olatundun, Kapadia, Malika, Bednarski, Jeffrey, Rayes, Ahmad, Chen, Karin, Chong, Hey, Cuvelier, Geoff D.E., Forbes, Lisa R., Martinez, Caridad, Vander Lugt, Mark T., Yu, Lolie C., Chandrakasan, Shanmuganathan, Joshi, Avni, Prockop, Susan E., Davila Saldana, Blachy J., Aquino, Victor, Ebens, Christen L., Madden, Lisa, DeSantes, Kenneth, Milner, Jordan, Rangarajan, Hemalatha G., Shah, Ami J, Gillio, Alfred P., Knutsen, Alan P., Miller, Holly K., Moore, Theodore B., Wright, Nicola
المصدر: Transplantation and Cellular Therapy ; volume 28, issue 3, page S101-S103 ; ISSN 2666-6367
مصطلحات موضوعية: Transplantation, Cell Biology, Hematology, Molecular Medicine, Immunology and Allergy
الإتاحة: https://doi.org/10.1016/s2666-6367Test(22)00286-x
https://api.elsevier.com/content/article/PII:S266663672200286X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S266663672200286X?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Hasan, Shirin, Hu, Liping, Williams, Olatundun, Eklund, Elizabeth A.
المساهمون: Veterans Health Administration Biomedical Laboratory Research and Development, National Institutes of Health, U.S. Department of Veterans Affairs
المصدر: Experimental Hematology ; volume 109, page 55-67.e2 ; ISSN 0301-472X
مصطلحات موضوعية: Cancer Research, Cell Biology, Genetics, Hematology, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.exphem.2022.03.001Test
https://api.elsevier.com/content/article/PII:S0301472X22001205?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0301472X22001205?httpAccept=text/plainTest