Search Results - "Janssen, Erin"

Distinct clinical and immunological features of SARS-CoV-2-induced multisystem inflammatory syndrome in children by Lee, Pui Y, Day-Lewis, Megan, Henderson, Lauren A, Friedman, Kevin G, Lo, Jeffrey, Roberts, Jordan E, Lo, Mindy S, Platt, Craig D, Chou, Janet, Hoyt, Kacie J, Baker, Annette L, Banzon, Tina M, Chang, Margaret H, Cohen, Ezra, de Ferranti, Sarah D, Dionne, Audrey, Habiballah, Saddiq, Halyabar, Olha, Hausmann, Jonathan S, Hazen, Melissa M, Janssen, Erin, Meidan, Esra, Nelson, Ryan W, Nguyen, Alan A, Sundel, Robert P, Dedeoglu, Fatma, Nigrovic, Peter A, Newburger, Jane W, Son, Mary Beth F

“…BACKGROUNDPediatric SARS-CoV-2 infection can be complicated by a dangerous hyperinflammatory condition termed multisystem inflammatory syndrome in children…”
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Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome by Uzel, Gulbu, MD, Sampaio, Elizabeth P., MD, PhD, Lawrence, Monica G., MD, Hsu, Amy P., BA, Hackett, Mary, BSN, Dorsey, Morna J., MD, Noel, Richard J., MD, Verbsky, James W., MD, PhD, Freeman, Alexandra F., MD, Janssen, Erin, MD, Bonilla, Francisco A., MD, PhD, Pechacek, Joseph, MS, Chandrasekaran, Prabha, PhD, Browne, Sarah K., MD, Agharahimi, Anahita, MSN, CRNP, Gharib, Ahmed M., MD, Mannurita, Sara C., MD, Yim, Jae Joon, MD, MPH, Gambineri, Eleonora, MD, Torgerson, Troy, MD, PhD, Tran, Dat Q., MD, Milner, Joshua D., MD, Holland, Steven M., MD

“…Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial…”
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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA by Charbonnier, Louis-Marie, PhD, Janssen, Erin, MD, PhD, Chou, Janet, MD, Ohsumi, Toshiro K., PhD, Keles, Sevgi, MD, Hsu, Joyce T., MD, Massaad, Michel J., PhD, Garcia-Lloret, Maria, MD, Hanna-Wakim, Rima, MD, Dbaibo, Ghassan, MD, Alangari, Abdullah A., MD, Alsultan, Abdulrahman, MD, Al-Zahrani, Daifulah, MD, Geha, Raif S., MD, Chatila, Talal A., MD, MSc

“…Background A number of heritable immune dysregulatory diseases result from defects affecting regulatory T (Treg) cell development, function, or both. They…”
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Epicutaneous sensitization results in IgE-dependent intestinal mast cell expansion and food-induced anaphylaxis by Bartnikas, Lisa M., MD, Gurish, Michael F., PhD, Burton, Oliver T., PhD, Leisten, Sabine, MS, Janssen, Erin, MD, PhD, Oettgen, Hans C., MD, PhD, Beaupré, Jacqueline, BA, Lewis, Christopher N., BA, Austen, K. Frank, MD, Schulte, Stephanie, MD, Hornick, Jason L., MD, PhD, Geha, Raif S., MD, Oyoshi, Michiko K., PhD

“…Background Sensitization to food antigen can occur through cutaneous exposure. Objective We sought to test the hypothesis that epicutaneous sensitization with…”
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Anakinra as first‐line disease‐modifying therapy in systemic juvenile idiopathic arthritis: Report of forty‐six patients from an international multicenter series by Nigrovic, Peter A., Mannion, Melissa, Prince, Femke H. M., Zeft, Andrew, Rabinovich, C. Egla, van Rossum, Marion A. J., Cortis, Elisabetta, Pardeo, Manuela, Miettunen, Paivi M., Janow, Ginger, Birmingham, James, Eggebeen, Aaron, Janssen, Erin, Shulman, Andrew I., Son, Mary Beth, Hong, Sandy, Jones, Karla, Ilowite, Norman T., Cron, Randy Q., Higgins, Gloria C.

“…Objective To examine the safety and efficacy of the interleukin‐1 (IL‐1) receptor antagonist anakinra as first‐line therapy for systemic juvenile idiopathic…”
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Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells by Janssen, Erin, MD, PhD, Morbach, Henner, MD, Ullas, Sumana, MS, Bannock, Jason M., MA, Massad, Christopher, BS, Menard, Laurence, PhD, Barlan, Isil, MD, Lefranc, Gerard, PhD, Su, Helen, MD, PhD, Dasouki, Majed, MD, Al-Herz, Waleed, MD, Keles, Sevgi, MD, Chatila, Talal, MD, Geha, Raif S., MD, Meffre, Eric, PhD

“…Background Dedicator of cytokinesis 8 (DOCK8) deficiency is typified by recurrent infections, increased serum IgE levels, eosinophilia, and a high incidence of…”
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WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis by Biswas, Amlan, Shouval, Dror S., Griffith, Alexandra, Goettel, Jeremy A., Field, Michael, Kang, Yu Hui, Konnikova, Liza, Janssen, Erin, Redhu, Naresh Singh, Thrasher, Adrian J., Chatila, Talal, Kuchroo, Vijay K., Geha, Raif S, Notarangelo, Luigi D., Pai, Sung-Yun, Horwitz, Bruce H., Snapper, Scott B.

“…Mutations in Wiskott–Aldrich syndrome protein (WASP) cause autoimmune sequelae including colitis. Yet, how WASP mediates mucosal homeostasis is not fully…”
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Immune dysregulation caused by homozygous mutations in CBLB by Janssen, Erin, Peters, Zachary, Alosaimi, Mohammed F, Smith, Emma, Milin, Elena, Stafstrom, Kelsey, Wallace, Jacqueline G, Platt, Craig D, Chou, Janet, Ansari, Yasmeen S. El, Farsi, Tariq Al, Ameziane, Najim, Al-Ali, Ruslan, Calvo, Maria, Rocha, Maria Eugenia, Bauer, Peter, Al-Sannaa, Nouriya Abbas, Sukaiti, Nashat Faud Al, Alangari, Abdullah A, Bertoli-Avella, Aida M, Geha, Raif S

“…CBL-B is an E3 ubiquitin ligase that ubiquitinates proteins downstream of immune receptors to downregulate positive signaling cascades. Distinct homozygous…”
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Case Report: Insulin hypersensitivity in youth with type 1 diabetes by Alkhatib, Einas H, Grundman, Jody B, Adamusiak, Anna M, Bellin, Melena D, Brooks, Joel P, Buckley, Kevin S, Janssen, Erin M, Kitcharoensakkul, Maleewan, McNerney, Kyle P, Pfeifer, Thea L, Polk, Brooke I, Marks, Brynn E

“…Immediate type I, type III, and delayed type IV hypersensitivity reactions to insulin are rare, but potentially serious complications of exogenous insulin…”
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Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report by Collen, Lauren V., Salgado, Carlos Andres, Bao, Bin, Janssen, Erin, Weir, Dascha, Goldsmith, Jeffrey, Leichtner, Alan, Sabery Khavari, Nasim, Gernez, Yael, Snapper, Scott B.

“…Primary immunodeficiency may present with treatment-refractory enteropathy. We present two patients with celiac/celiac-like disease diagnosed in early…”
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Next‐Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis by Henderson, Lauren A., Volpi, Stefano, Frugoni, Francesco, Janssen, Erin, Kim, Susan, Sundel, Robert P., Dedeoglu, Fatma, Lo, Mindy S., Hazen, Melissa M., Beth Son, Mary, Mathieu, Ronald, Zurakowski, David, Yu, Neng, Lebedeva, Tatiana, Fuhlbrigge, Robert C., Walter, Jolan E., Nee Lee, Yu, Nigrovic, Peter A., Notarangelo, Luigi D.

“…Objective Treg cell–mediated suppression of Teff cells is impaired in juvenile idiopathic arthritis (JIA); however, the basis for this dysfunction is…”
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Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency by Pai, Sung-Yun, MD, de Boer, Helen, BSc, Massaad, Michel J., PhD, Chatila, Talal A., MD, Keles, Sevgi, MD, Jabara, Haifa H., BS, Janssen, Erin, MD, PhD, Lehmann, Leslie E., MD, Hanna-Wakim, Rima, MD, Dbaibo, Ghassan, MD, McDonald, Douglas R., MD, PhD, Al-Herz, Waleed, MD, Geha, Raif S., MD

“…DOCK8 could not be detected by flow cytometry in T cells, B cells, and CD34+ BM cells from 3 patients (Fig 1, B and data not shown). Because proteins in…”
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Disordered T cell-B cell interactions in autoantibody-positive inflammatory arthritis by Julé, Amélie M, Lam, Ki Pui, Taylor, Maria, Hoyt, Kacie J, Wei, Kevin, Gutierrez-Arcelus, Maria, Case, Siobhan M, Chandler, Mia, Chang, Margaret H, Cohen, Ezra M, Dedeoglu, Fatma, Halyabar, Olha, Hausmann, Jonathan, Hazen, Melissa M, Janssen, Erin, Lo, Jeffrey, Lo, Mindy S, Meidan, Esra, Roberts, Jordan E, Wobma, Holly, Son, Mary Beth F, Sundel, Robert P, Lee, Pui Y, Sage, Peter T, Chatila, Talal A, Nigrovic, Peter A, Rao, Deepak A, Henderson, Lauren A

“…T peripheral helper (Tph) cells, identified in the synovium of adults with seropositive rheumatoid arthritis, drive B cell maturation and antibody production…”
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Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis by Janssen, Erin, Tsitsikov, Erdyni, Al-Herz, Waleed, Lefranc, Gerard, Megarbane, Andre, Dasouki, Majed, Bonilla, Francisco A, Chatila, Talal, Schneider, Lynda, Geha, Raif S

“…Abstract DOCK8 deficiency is a primary immunodeficiency characterized by recurrent sinopulmonary infections, dermatitis with cutaneous infections, elevated…”
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Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice by Jabara, Haifa H., BSc, Lee, John J., MD, Janssen, Erin, MD, PhD, Ullas, Sumana, MS, Liadaki, Kyriaki, PhD, Garibyan, Lilit, MD, PhD, Benson, Halli, BS, Sannikova, Tatyana, BS, Bram, Richard, MD, PhD, Hammarstrom, Lennart, MD, Cruz, Anthony C., BS, Siegel, Richard, MD, PhD, Manis, John, MD, Malley, Richard, MD, Geha, Raif S., MD

“…Background The B-cell receptor transmembrane activator and calcium modulator ligand interactor (TACI) is important for T-independent antibody responses. One in…”
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Th1 polarization defines the synovial fluid T cell compartment in oligoarticular juvenile idiopathic arthritis by Julé, Amélie M, Hoyt, Kacie J, Wei, Kevin, Gutierrez-Arcelus, Maria, Taylor, Maria L, Ng, Julie, Lederer, James A, Case, Siobhan M, Chang, Margaret H, Cohen, Ezra M, Dedeoglu, Fatma, Hazen, Melissa M, Hausmann, Jonathan S, Halyabar, Olha, Janssen, Erin, Lo, Jeffrey, Lo, Mindy S, Meidan, Esra, Roberts, Jordan E, Son, Mary Beth F, Sundel, Robert P, Lee, Pui Y, Chatila, Talal, Nigrovic, Peter A, Henderson, Lauren A

“…Oligoarticular juvenile idiopathic arthritis (oligo JIA) is the most common form of chronic inflammatory arthritis in children, yet the cause of this disease…”
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TRIF signaling is essential for TLR4-driven IgE class switching by Janssen, Erin, Ozcan, Esra, Liadaki, Kyriaki, Jabara, Haifa H, Manis, John, Ullas, Sumana, Akira, Shizuo, Fitzgerald, Katherine A, Golenbock, Douglas T, Geha, Raif S

“…The TLR4 ligand LPS causes mouse B cells to undergo IgE and IgG1 isotype switching in the presence of IL-4. TLR4 activates two signaling pathways mediated by…”
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New and Emerging Rheumatic Diseases by JANSSEN, ERIN

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Emerging Concepts in Immune Dysregulation by Janssen, Erin

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Defining a new immune deficiency syndrome: MAN2B2-CDG by Verheijen, Jan, Wong, Sunnie Y., Rowe, Jared H., Raymond, Kimiyo, Stoddard, Jennifer, Delmonte, Ottavia M., Bosticardo, Marita, Dobbs, Kerry, Niemela, Julie, Calzoni, Enrica, Pai, Sung-Yun, Choi, Uimook, Yamazaki, Yasuhiro, Comeau, Anne Marie, Janssen, Erin, Henderson, Lauren, Hazen, Melissa, Berry, Gerard, Rosenzweig, Sergio D., Aldhekri, Hasan Hamdan, He, Miao, Notarangelo, Luigi D., Morava, Eva

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