Search Results - "Lucas, Carrie L"

Infections in activated PI3K delta syndrome (APDS) by Brodsky, Nina N, Lucas, Carrie L

“…•APDS is caused by activating mutations in PIK3CD or PIK3R1 encoding PI3Kδ subunits.•Recurrent infection, lymphoproliferation, and immunopathology occur in…”
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SARS-CoV-2 mRNA vaccines decouple anti-viral immunity from humoral autoimmunity by Jaycox, Jillian R., Lucas, Carolina, Yildirim, Inci, Dai, Yile, Wang, Eric Y., Monteiro, Valter, Lord, Sandra, Carlin, Jeffrey, Kita, Mariko, Buckner, Jane H., Ma, Shuangge, Campbell, Melissa, Ko, Albert, Omer, Saad, Lucas, Carrie L., Speake, Cate, Iwasaki, Akiko, Ring, Aaron M.

“…mRNA-based vaccines dramatically reduce the occurrence and severity of COVID-19, but are associated with rare vaccine-related adverse effects. These…”
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Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation by Thian, Marini, Hoeger, Birgit, Kamnev, Anton, Poyer, Fiona, Köstel Bal, Sevgi, Caldera, Michael, Jiménez-Heredia, Raúl, Huemer, Jakob, Pickl, Winfried F, Groß, Miriam, Ehl, Stephan, Lucas, Carrie L, Menche, Jörg, Hutter, Caroline, Attarbaschi, Andishe, Dupré, Loïc, Boztug, Kaan

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Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency by Carpier, Jean-Marie, Lucas, Carrie L

“…Activated PI3Kδ Syndrome (APDS) is an inherited immune disorder caused by heterozygous, gain-of-function mutations in the genes encoding the phosphoinositide…”
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Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation by Tyler, Paul M., Bucklin, Molly L., Zhao, Mengting, Maher, Timothy J., Rice, Andrew J., Ji, Weizhen, Warner, Neil, Pan, Jie, Morotti, Raffaella, McCarthy, Paul, Griffiths, Anne, van Rossum, Annemarie M. C., Hollink, Iris H.I.M., Dalm, Virgil A.S.H., Catanzaro, Jason, Lakhani, Saquib A., Muise, Aleixo M., Lucas, Carrie L.

“…Transcription factors specialized to limit the destructive potential of inflammatory immune cells remain ill-defined. We discovered loss-of-function variants…”
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Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology by Takeda, Andrew J., Maher, Timothy J., Zhang, Yu, Lanahan, Stephen M., Bucklin, Molly L., Compton, Susan R., Tyler, Paul M., Comrie, William A., Matsuda, Makoto, Olivier, Kenneth N., Pittaluga, Stefania, McElwee, Joshua J., Long Priel, Debra A., Kuhns, Douglas B., Williams, Roger L., Mustillo, Peter J., Wymann, Matthias P., Koneti Rao, V., Lucas, Carrie L.

“…Phosphatidylinositol 3-kinase-gamma (PI3Kγ) is highly expressed in leukocytes and is an attractive drug target for immune modulation. Different experimental…”
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Editorial: Human Disorders of PI3K Biology by Lucas, Carrie L, Tangye, Stuart G

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Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome by Brodsky, Nina N, Boyarchuk, Oksana, Kovalchuk, Tetyana, Hariyan, Tetyana, Rice, Andrew, Ji, Weizhen, Khokha, Mustafa, Lakhani, Saquib, Lucas, Carrie L

“…Two variants in the ubiquitously expressed NHLRC2 gene have been reported to cause a lethal fibrotic cerebropulmonary disease termed fibrosis,…”
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Human genetic errors of immunity illuminate an adaptive arsenal model of rapid defenses by Lucas, Carrie L.

“…The field of genetic errors of human immunity has long provided basic and clinical insights elucidating essential immune functions and their molecular…”
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PI3Kδ and primary immunodeficiencies by Lucas, Carrie L., Chandra, Anita, Nejentsev, Sergey, Condliffe, Alison M., Okkenhaug, Klaus

“…Key Points PI3Kδ (phosphoinositide 3-kinase-δ) is a key signal transduction node in cells of the immune system. This kinase complex is acutely activated in B…”
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Maximizing insights from monogenic immune disorders by Barmada, Anis, Ramaswamy, Anjali, Lucas, Carrie L

“…•Genomics accelerated monogenic disease discovery while revealing their complexity even with large effect size variants.•Factors beyond the genome impact…”
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The role of PI3Kγ in the immune system: new insights and translational implications by Lanahan, Stephen M., Wymann, Matthias P., Lucas, Carrie L.

“…Over the past two decades, new insights have positioned phosphoinositide 3-kinase-γ (PI3Kγ) as a context-dependent modulator of immunity and inflammation…”
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Genomics of Immune Diseases and New Therapies by Lenardo, Michael, Lo, Bernice, Lucas, Carrie L

“…Genomic DNA sequencing technologies have been one of the great advances of the 21st century, having decreased in cost by seven orders of magnitude and opening…”
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The Mystery of MIS-C Post-SARS-CoV-2 Infection by Brodsky, Nina N., Ramaswamy, Anjali, Lucas, Carrie L.

“…Following emergence of the coronavirus disease 2019 (COVID-19) pandemic, a surge in the life-threatening illness now termed ‘multisystem inflammatory syndrome…”
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Immune dysregulation and autoreactivity correlate with disease severity in SARS-CoV-2-associated multisystem inflammatory syndrome in children by Ramaswamy, Anjali, Brodsky, Nina N., Sumida, Tomokazu S., Comi, Michela, Asashima, Hiromitsu, Hoehn, Kenneth B., Li, Ningshan, Liu, Yunqing, Shah, Aagam, Ravindra, Neal G., Bishai, Jason, Khan, Alamzeb, Lau, William, Sellers, Brian, Bansal, Neha, Guerrerio, Pamela, Unterman, Avraham, Habet, Victoria, Rice, Andrew J., Catanzaro, Jason, Chandnani, Harsha, Lopez, Merrick, Kaminski, Naftali, Dela Cruz, Charles S., Tsang, John S., Wang, Zuoheng, Yan, Xiting, Kleinstein, Steven H., van Dijk, David, Pierce, Richard W., Hafler, David A., Lucas, Carrie L.

“…Multisystem inflammatory syndrome in children (MIS-C) is a life-threatening post-infectious complication occurring unpredictably weeks after mild or…”
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Effective “activated PI3Kδ syndrome”–targeted therapy with the PI3Kδ inhibitor leniolisib by Rao, V. Koneti, Webster, Sharon, Dalm, Virgil A.S.H., Šedivá, Anna, van Hagen, P. Martin, Holland, Steven, Rosenzweig, Sergio D., Christ, Andreas D., Sloth, Birgitte, Cabanski, Maciej, Joshi, Aniket D., de Buck, Stefan, Doucet, Julie, Guerini, Danilo, Kalis, Christoph, Pylvaenaeinen, Ilona, Soldermann, Nicolas, Kashyap, Anuj, Uzel, Gulbu, Lenardo, Michael J., Patel, Dhavalkumar D., Lucas, Carrie L., Burkhart, Christoph

“…Pathogenic gain-of-function variants in the genes encoding phosphoinositide 3-kinase δ (PI3Kδ) lead to accumulation of transitional B cells and senescent T…”
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Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K by Lucas, Carrie L, Zhang, Yu, Venida, Anthony, Wang, Ying, Hughes, Jason, McElwee, Joshua, Butrick, Morgan, Matthews, Helen, Price, Susan, Biancalana, Matthew, Wang, Xiaochuan, Richards, Michael, Pozos, Tamara, Barlan, Isil, Ozen, Ahmet, Rao, V Koneti, Su, Helen C, Lenardo, Michael J

“…Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist as an intracellular complex of a…”
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Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1 by Dornan, Gillian L., Siempelkamp, Braden D., Jenkins, Meredith L., Vadas, Oscar, Lucas, Carrie L., Burke, John E.

“…Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by activating mutations in either the leukocyte-restricted p110δ catalytic…”
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Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency by Lucas, Carrie L, Kuehn, Hye Sun, Zhao, Fang, Niemela, Julie E, Deenick, Elissa K, Palendira, Umaimainthan, Avery, Danielle T, Moens, Leen, Cannons, Jennifer L, Biancalana, Matthew, Stoddard, Jennifer, Ouyang, Weiming, Frucht, David M, Rao, V Koneti, Atkinson, T Prescott, Agharahimi, Anahita, Hussey, Ashleigh A, Folio, Les R, Olivier, Kenneth N, Fleisher, Thomas A, Pittaluga, Stefania, Holland, Steven M, Cohen, Jeffrey I, Oliveira, Joao B, Tangye, Stuart G, Schwartzberg, Pamela L, Lenardo, Michael J, Uzel, Gulbu

“…Lymphocyte function is regulated by phosphatidylinositol-dependent pathways. Uzel and colleagues identify a cohort of immunodeficient patients with hyperactive…”
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Antibodies against insulin measured by electrochemiluminescence predicts insulitis severity and disease onset in non-obese diabetic mice and can distinguish human type 1 diabetes status by Lo, Bernice, Swafford, Austin D E, Shafer-Weaver, Kimberly A, Jerome, Lawrence F, Rakhlin, Luba, Mathern, Douglas R, Callahan, Conor A, Jiang, Ping, Davison, Lucy J, Stevens, Helen E, Lucas, Carrie L, White, Jill, von Borstel, Reid, Todd, John A, Lenardo, Michael J

“…The detection of insulin autoantibodies (IAA) aids in the prediction of autoimmune diabetes development. However, the long-standing, gold standard 125I-insulin…”
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