Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review
Fabre, Alexandre, Marchal, Sarah, Barlogis, Vincent, Mari, Bernard, Barbry, Pascal, Rohrlich, Pierre-Simon, Forbes, Lisa R, Vogel, Tiphanie P, Giovannini-Chami, Lisa
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.07.2019)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.07.2019)
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Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
Weinacht, Katja G., MD, PhD, Charbonnier, Louis-Marie, PhD, Alroqi, Fayhan, MD, Plant, Ashley, MD, Qiao, Qi, PhD, Wu, Hao, PhD, Ma, Clement, PhD, Torgerson, Troy R., MD, PhD, Rosenzweig, Sergio D., MD, PhD, Fleisher, Thomas A., MD, Notarangelo, Luigi D., MD, Hanson, Imelda C., MD, Forbes, Lisa R., MD, Chatila, Talal A., MD, MSc
Published in Journal of allergy and clinical immunology (01.05.2017)
Published in Journal of allergy and clinical immunology (01.05.2017)
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STAT5b: A master regulator of key biological pathways
Smith, Madison R, Satter, Lisa R Forbes, Vargas-Hernández, Alexander
Published in Frontiers in immunology (23.01.2023)
Published in Frontiers in immunology (23.01.2023)
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Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity
Grier, Jennifer T, Forbes, Lisa R, Monaco-Shawver, Linda, Oshinsky, Jennifer, Atkinson, T Prescott, Moody, Curtis, Pandey, Rahul, Campbell, Kerry S, Orange, Jordan S
Published in The Journal of clinical investigation (01.10.2012)
Published in The Journal of clinical investigation (01.10.2012)
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Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function
Vargas-Hernández, Alexander, Witalisz-Siepracka, Agnieszka, Prchal-Murphy, Michaela, Klein, Klara, Mahapatra, Sanjana, Al-Herz, Waleed, Mace, Emily M., Carisey, Alexandre F., Orange, Jordan S., Sexl, Veronika, Forbes, Lisa R.
Published in Journal of allergy and clinical immunology (01.01.2020)
Published in Journal of allergy and clinical immunology (01.01.2020)
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High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults
Mahapatra, Sanjana, Mace, Emily M, Minard, Charles G, Forbes, Lisa R, Vargas-Hernandez, Alexander, Duryea, Teresa K, Makedonas, George, Banerjee, Pinaki P, Shearer, William T, Orange, Jordan S
Published in PloS one (02.08.2017)
Published in PloS one (02.08.2017)
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STAT3 gain-of-function syndrome
Vogel, Tiphanie P, Leiding, Jennifer W, Cooper, Megan A, Forbes Satter, Lisa R
Published in Frontiers in pediatrics (09.02.2023)
Published in Frontiers in pediatrics (09.02.2023)
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Kuhny, Marcel, Forbes, Lisa R, Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K, Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E, Hanson, I Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Chinn, Ivan K, Schatz, David G, Orange, Jordan S, Meffre, Eric
Published in The Journal of clinical investigation (01.08.2020)
Published in The Journal of clinical investigation (01.08.2020)
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Interplay between epigenetic and genetic alterations in inborn errors of immunity
Rodríguez-Ubreva, Javier, Calvillo, Celia L., Forbes Satter, Lisa R., Ballestar, Esteban
Published in Trends in immunology (01.11.2023)
Published in Trends in immunology (01.11.2023)
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A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism
Netter, Petra, PhD, Chan, Sanny K., MD, PhD, Banerjee, Pinaki P., PhD, Monaco-Shawver, Linda, BS, Noroski, Lenora M., MD, MPH, Hanson, Imelda C., MD, Forbes, Lisa R., MD, Mace, Emily M., PhD, Chinen, Javier, MD, PhD, Gaspar, H. Bobby, PhD, Sleiman, Patrick, PhD, Hakonarson, Hakon, MD, PhD, Klein, Christoph, MD, PhD, Ehlayel, Mohammad S., MD, Orange, Jordan S., MD, PhD
Published in Journal of allergy and clinical immunology (01.08.2016)
Published in Journal of allergy and clinical immunology (01.08.2016)
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STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis
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
Published in Journal of allergy and clinical immunology (01.10.2022)
Published in Journal of allergy and clinical immunology (01.10.2022)
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Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation
Taylor, Margaret G, Nicholas, Sarah K, Forbes Satter, Lisa R, Martinez, Caridad, Cameron, Lindsay H
Published in The Pediatric infectious disease journal (01.05.2022)
Published in The Pediatric infectious disease journal (01.05.2022)
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Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency
Kamili, Qurat ul Ain, MD, Seeborg, Filiz O., MD, MPH, Saxena, Kapil, BA, Nicholas, Sarah K., MD, Banerjee, Pinaki P., PhD, Angelo, Laura S., PhD, Mace, Emily M., PhD, Forbes, Lisa R., MD, Martinez, Caridad, MD, Wright, Teresa S., MD, Orange, Jordan S., MD, PhD, Hanson, Imelda Celine, MD
Published in Journal of allergy and clinical immunology (01.12.2014)
Published in Journal of allergy and clinical immunology (01.12.2014)
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Journal Article
JAK/STAT defects and immune dysregulation, and guiding therapeutic choices
Chaimowitz, Natalia S., Smith, Madison R., Forbes Satter, Lisa R.
Published in Immunological reviews (01.03.2024)
Published in Immunological reviews (01.03.2024)
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Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
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
Published in Blood (12.10.2023)
Published in Blood (12.10.2023)
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An ELF4 hypomorphic variant results in NK cell deficiency
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
Published in JCI insight (08.12.2022)
Published in JCI insight (08.12.2022)
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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
Aird, Alejandra, Lagos, Macarena, Vargas-Hernández, Alexander, Posey, Jennifer E, Coban-Akdemir, Zeynep, Jhangiani, Shalini, Mace, Emily M, Reyes, Anaid, King, Alejandra, Cavagnaro, Felipe, Forbes, Lisa R, Chinn, Ivan K, Lupski, James R, Orange, Jordan S, Poli, Maria Cecilia
Published in Frontiers in pediatrics (30.07.2019)
Published in Frontiers in pediatrics (30.07.2019)
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