Search Results - "Forbes Satter, Lisa"

JAK/STAT defects and immune dysregulation, and guiding therapeutic choices by Chaimowitz, Natalia S., Smith, Madison R., Forbes Satter, Lisa R.

“…Summary Inborn errors of immunity (IEIs) encompass a diverse spectrum of genetic disorders that disrupt the intricate mechanisms of the immune system, leading…”
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Monogenically driven therapies: the new first line by Forbes Satter, Lisa R.

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STAT3 gain-of-function syndrome by Vogel, Tiphanie P, Leiding, Jennifer W, Cooper, Megan A, Forbes Satter, Lisa R

“…STAT3 gain-of-function (GOF) syndrome is a multi-organ primary immune regulatory disorder characterized by early onset autoimmunity. Patients present early in…”
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STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis by Pelham, Simon J, Caldirola, Maria Soledad, Avery, Danielle T, Mackie, Joseph, Rao, Geetha, Gothe, Florian, Peters, Timothy J, Guerin, Antoine, Neumann, David, Vokurkova, Doris, Hwa, Vivian, Zhang, Wenming, Lyu, Shu-Chen, Chang, Iris, Manohar, Monali, Nadeau, Kari C, Gaillard, Maria Isabel, Bezrodnik, Liliana, Iotova, Violeta, Zwirner, Norberto Walter, Gutierrez, Mavel, Al-Herz, Waleed, Goodnow, Christopher C, Vargas-Hernández, Alexander, Forbes Satter, Lisa R, Hambleton, Sophie, Deenick, Elissa K, Ma, Cindy S, Tangye, Stuart G

“…Lymphocyte differentiation is regulated by coordinated actions of cytokines and signaling pathways. IL-21 activates STAT1, STAT3, and STAT5 and is fundamental…”
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Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation by Taylor, Margaret G., Nicholas, Sarah K., Forbes Satter, Lisa R., Martinez, Caridad, Cameron, Lindsay H.

“…Infants with inborn errors of immunity (IEI), born in countries where Bacillus-Calmette-Guerin (BCG) vaccination is recommended at birth, are at risk of…”
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Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome by Labrosse, Roxane, Chu, Julia I., Armant, Myriam A., Everett, John K., Pellin, Danilo, Kareddy, Niharika, Frelinger, Andrew L., Henderson, Lauren A., O’Connell, Amy E., Biswas, Amlan, Coenen-van der Spek, Jet, Miggelbrink, Alexandra, Fiorini, Claudia, Adhikari, Hriju, Berry, Charles C., Cantu, Vito Adrian, Fong, Johnson, Jaroslavsky, Jason, Karadeniz, Derin F., Li, Quan-Zhen, Reddy, Shantan, Roche, Aoife M., Zhu, Chengsong, Whangbo, Jennifer S., Dansereau, Colleen, Mackinnon, Brenda, Morris, Emily, Koo, Stephanie M., London, Wendy B., Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Despotovic, Jenny M., Forbes Satter, Lisa R., Saitoh, Akihiko, Aizawa, Yuta, King, Alejandra, Nguyen, Mai Anh Thi, Vu, Vy Do Uyen, Snapper, Scott B., Galy, Anne, Notarangelo, Luigi D., Bushman, Frederic D., Williams, David A., Pai, Sung-Yun

“…•High vector copy number in individual colony-forming units correlated strongly with reconstitution of platelets and myeloid function.•Patients with poor…”
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An ELF4 hypomorphic variant results in NK cell deficiency by Salinas, Sandra Andrea, Mace, Emily M, Conte, Matilde I, Park, Chun Shik, Li, Yu, Rosario-Sepulveda, Joshua I, Mahapatra, Sanjana, Moore, Emily K, Hernandez, Evelyn R, Chinn, Ivan K, Reed, Abigail E, Lee, Barclay J, Frumovitz, Alexander, Gibbs, Richard A, Posey, Jennifer E, Forbes Satter, Lisa R, Thatayatikom, Akaluck, Allenspach, Eric J, Wensel, Theodore G, Lupski, James R, Lacorazza, H Daniel, Orange, Jordan S

“…NK cell deficiencies (NKD) are a type of primary immune deficiency in which the major immunologic abnormality affects NK cell number, maturity, or function…”
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STAT5b: A master regulator of key biological pathways by Smith, Madison R, Satter, Lisa R Forbes, Vargas-Hernández, Alexander

“…The Signal Transducer and Activator of Transcription (STAT)-5 proteins are required in immune regulation and homeostasis and play a crucial role in the…”
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The earlier, the better: RAG-deficient transplants by Forbes Satter, Lisa R., Martinez, Caridad

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NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early‐Onset Inflammatory Bowel Disease by Watson, Ashleigh, Forbes Satter, Lisa, Reiland Sauceda, Ashley, Kellermayer, Richard, Karam, Lina B.

“…NOD2/CARD15 was the first susceptibility gene recognized for adult‐onset Crohn's (or Crohn) disease (CD). Recessive inheritance of NOD2 polymorphisms has been…”
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Alterations in STAT Signaling Dysregulate CD8 T Cell Activation by Campos, Jose, Conrey, Peyton, Sayed, Samir, Vogel, Tiphanie, Leiding, Jennifer, Satter, Lisa Forbes, Holland, Steven, Freeman, Alexandra

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Diagnostic Modalities in Primary Immunodeficiency by Raymond, Loveita S., Leiding, Jennifer, Forbes-Satter, Lisa R.

“…As the field of inborn errors of immunity expands, providers continually update and fine-tune their diagnostic approach and selection of testing modalities to…”
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Expansion of the clinical phenotype of GALE deficiency by Markovitz, Rebecca, Owen, Nichole, Satter, Lisa Forbes, Kirk, Susan, Mahoney, Donald H., Bertuch, Alison A., Scaglia, Fernando

“…Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan…”
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Interplay between epigenetic and genetic alterations in inborn errors of immunity by Rodríguez-Ubreva, Javier, Calvillo, Celia L., Forbes Satter, Lisa R., Ballestar, Esteban

“…Human inborn errors of immunity (IEIs) comprise pathological conditions characterized by increased susceptibility to infections and immune dysregulation. Many…”
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Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC by Cuvelier, Geoffrey D.E., Logan, Brent R., Prockop, Susan E., Buckley, Rebecca H., Kuo, Caroline Y., Griffith, Linda M., Liu, Xuerong, Yip, Alison, Hershfield, Michael S., Ayoub, Paul G., Moore, Theodore B., Dorsey, Morna J., O'Reilly, Richard J., Kapoor, Neena, Pai, Sung-Yun, Kapadia, Malika, Ebens, Christen L., Forbes Satter, Lisa R., Burroughs, Lauri M., Petrovic, Aleksandra, Chellapandian, Deepak, Heimall, Jennifer, Shyr, David C., Rayes, Ahmad, Bednarski, Jeffrey J., Chandra, Sharat, Chandrakasan, Shanmuganathan, Gillio, Alfred P., Madden, Lisa, Quigg, Troy C., Caywood, Emi H., Dávila Saldaña, Blachy J., DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick D., Rozmus, Jacob, Shah, Ami J., Vander Lugt, Mark T., Thakar, Monica S., Parrott, Roberta E., Martinez, Caridad, Leiding, Jennifer W., Torgerson, Troy R., Pulsipher, Michael A., Notarangelo, Luigi D., Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Puck, Jennifer M., Kohn, Donald B.

“…Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT),…”
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Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality by Squire, Jacqueline D, Vazquez, Stephanie N, Chan, Angela, Smith, Michele E, Chellapandian, Deepak, Vose, Laura, Teppa, Beatriz, Hanson, I Celine, Chinn, Ivan K, Forbes-Satter, Lisa, Seeborg, Filiz O, Nicholas, Sarah K, Martinez, Caridad A, Allen, Carl E, Connors, Thomas J, Satwani, Prakash, Shtessel, Maria, Ale, Hanadys, Noroski, Lenora M, Rider, Nicholas L, Milner, Joshua D, Leiding, Jennifer W

“…Chronic granulomatous disease (CGD) is a primary immune deficiency due to defects in phagocyte respiratory burst leading to severe and life-threatening…”
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Intralesional Corticosteroids as Adjunctive Therapy for Refractory Cutaneous Lesions in Chronic Granulomatous Disease by Joseph, Michelle, Chew, Wai-Tim, Seeborg, Filiz, Satter, Lisa Forbes, Anvari, Sara, Chinn, Ivan K., Davis, Carla M., Gupta, Meera R., Nicholas, Sarah, Noroski, Lenora M., James, Mansi, Deniskin, Roman, Diaz, Veronica C., Lowe, Juliette, Lee, Grace L., Craddock, Megan F., Chan, Audrey J., Rider, Nicholas L.

“…Chronic granulomatous disease (CGD) arises from defects in the reduced nicotinamide adenine dinucleotide phosphate-oxidase complex leading to defective…”
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A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency by Knight, Vijaya, Heimall, Jennifer R., Chong, Hey, Nandiwada, Sarada L., Chen, Karin, Lawrence, Monica G., Sadighi Akha, Amir A., Kumánovics, Attila, Jyonouchi, Soma, Ngo, Suzanne Y., Vinh, Donald C., Hagin, David, Forbes Satter, Lisa R., Marsh, Rebecca A., Chiang, Samuel C.C., Willrich, Maria A.V., Frazer-Abel, Ashley A., Rider, Nicholas L.

“…Knowledge related to the biology of inborn errors of immunity and associated laboratory testing methods continues to expand at a tremendous rate. Despite this,…”
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Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center by Kim, Taylor Olmsted, Curry, Choladda V., Wiszniewska, Joanna, Elghetany, M. Tarek, Satter, Lisa R. Forbes, Grimes, Amanda B., Despotovic, Jenny M.

“…Autoimmune myelofibrosis (AIMF) is a rare disorder characterized by cytopenias and autoimmunity, with characteristic bone marrow findings that include…”
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Role of Src-PI3K signaling activation in regulation of STAT5b-deficient NK cell function in response to IL-2 by Vargas-Hernandez, Alexander, Satter, Lisa Forbes

“…Mutations in the Signal Transducer and Activator of Transcription (STAT)5b, are associated with low numbers of NK cells and poor cytolytic function. IL-2…”
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