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Vogel, tiphanie

M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides, Zeynep H Coban-Akdemir, Richard A Gibbs, Shalini N Jhangiani, Donna M Muzny, Claudia M B Carvalho, Deborah A Schady, Mahim Jain, Jill A Rosenfeld, Lisa Emrick, Richard A Lewis, Brendan Lee, Barbara A Zieba, Sébastien Küry, Elke Krüger, James R Lupski, Bret L Bostwick, Jordan S Orange
The proteasome processes proteins to facilitate immune recognition and host defense. When inherently defective, it can lead to aberrant immunity resulting in a dysregulated response that can cause autoimmunity and/or autoinflammation. Biallelic or digenic loss-of-function variants in some of the proteasome subunits have been described as causing a primary immunodeficiency disease that manifests as a severe dysregulatory syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE)...
May 22, 2018: American Journal of Human Genetics
Alexandre Fabre, Sarah Marchal, Lisa Renee Forbes, Tiphanie Phillips Vogel, Vincent Barlogis, Valérie Triolo, Pierre-Simon Rohrlich, Etienne Bérard, Diane Frankel, Damien Ambrosetti, Christine Soler, Marie Hoflack, Marie Baque, Emmanuelle Bosdure, Mélisande Baravalle, Ania Carsin, Jean-Christophe Dubus, Lisa Giovannini-Chami
No abstract text is available yet for this article.
March 28, 2018: American Journal of Respiratory and Critical Care Medicine
Jun Xia, Christopher A Miller, Jack Baty, Amrita Ramesh, Matthew R M Jotte, Robert S Fulton, Tiphanie P Vogel, Megan A Cooper, Kelly J Walkovich, Vahagn Makaryan, Audrey A Bolyard, Mary C Dinauer, David B Wilson, Adrianna Vlachos, Kasiani C Myers, Robert J Rothbaum, Alison A Bertuch, David C Dale, Akiko Shimamura, Laurence A Boxer, Daniel C Link
Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis...
January 25, 2018: Blood
Neil Romberg, Tiphanie P Vogel, Scott W Canna
PURPOSE OF REVIEW: The purpose of the review is to highlight developments in autoinflammatory diseases associated with gain-of-function mutations in the gene encoding NLR-family CARD-containing protein 4 (NLRC4), the NLRC4-inflammasomopathies. RECENT FINDINGS: Three years since the identification of the first autoinflammation with infantile enterocolitis (AIFEC) patients, there is an improved understanding of how the NLRC4 inflammasome and interleukin 18 (IL-18) contribute to gut inflammation in myeloid and also intestinal epithelial cells...
December 2017: Current Opinion in Allergy and Clinical Immunology
Michael Alexander Weinreich, Tiphanie P Vogel, V Koneti Rao, Joshua D Milner
The number of identified monogenic causes of childhood-onset autoimmunity due to nodal and extranodal lymphoproliferation has increased. These pathogenic genetic variants provide the potential for pathway-specific treatment. Novel variants also require pathway-specific verification. In this report, we describe a 14-year-old patient with a novel variant in STAT3. We report clinical and laboratory findings that support STAT3 p.G419R as a novel pathogenic STAT3 gain-of-function variant.
2017: Frontiers in Pediatrics
Tiphanie P Vogel, Joshua D Milner, Megan A Cooper
The transcription factor signal transducer and activator of transcription 3 (STAT3) is a critical regulator of multiple, diverse cellular processes. Heterozgyous, germline, loss-of-function mutations in STAT3 lead to the primary immune deficiency Hyper-IgE syndrome. Heterozygous, somatic, gain-of-function mutations in STAT3 have been reported in malignancy. Recently, germline, heterozygous mutations in STAT3 that confer a gain-of-function have been discovered and result in early-onset, multi-organ autoimmunity...
October 2015: Journal of Clinical Immunology
Molly P Keppel, Nermina Saucier, Annelise Y Mah, Tiphanie P Vogel, Megan A Cooper
There has been increasing recognition of the importance of cellular metabolism and metabolic substrates for the function and differentiation of immune cells. In this study, for the first time to our knowledge, we investigate the metabolic requirements for production of IFN-γ by freshly isolated NK cells. Primary murine NK cells mainly use mitochondrial oxidative phosphorylation at rest and with short-term activation. Remarkably, we discovered significant differences in the metabolic requirements of murine NK cell IFN-γ production depending upon the activation signal...
February 15, 2015: Journal of Immunology: Official Journal of the American Association of Immunologists
Joshua D Milner, Tiphanie P Vogel, Lisa Forbes, Chi A Ma, Asbjørg Stray-Pedersen, Julie E Niemela, Jonathan J Lyons, Karin R Engelhardt, Yu Zhang, Nermina Topcagic, Elisha D O Roberson, Helen Matthews, James W Verbsky, Trivikram Dasu, Alexander Vargas-Hernandez, Nidhy Varghese, Kenneth L McClain, Lina B Karam, Karen Nahmod, George Makedonas, Emily M Mace, Hanne S Sorte, Gøri Perminow, V Koneti Rao, Michael P O'Connell, Susan Price, Helen C Su, Morgan Butrick, Joshua McElwee, Jason D Hughes, Joseph Willet, David Swan, Yaobo Xu, Mauro Santibanez-Koref, Voytek Slowik, Darrell L Dinwiddie, Christina E Ciaccio, Carol J Saunders, Seth Septer, Stephen F Kingsmore, Andrew J White, Andrew J Cant, Sophie Hambleton, Megan A Cooper
Germline loss-of-function mutations in the transcription factor signal transducer and activator of transcription 3 (STAT3) cause immunodeficiency, whereas somatic gain-of-function mutations in STAT3 are associated with large granular lymphocytic leukemic, myelodysplastic syndrome, and aplastic anemia. Recently, germline mutations in STAT3 have also been associated with autoimmune disease. Here, we report on 13 individuals from 10 families with lymphoproliferation and early-onset solid-organ autoimmunity associated with 9 different germline heterozygous mutations in STAT3...
January 22, 2015: Blood
Tiphanie Vogel, Maleewan Kitcharoensakkul, Lampros Fotis, Kevin Baszis
Recent advances in Kawasaki disease have included attempts to define genes involved in its pathogenesis. There have been recent advances in the studies of rheumatic carditis, leading to a better understanding of the mechanism of the disease. Histologic evaluation of patients with neonatal lupus erythematosus has revealed fibrosis with collagen deposition and calcification of the atrioventricular node. Therapy for cardiac involvement in systemic juvenile idiopathic arthritis should involve treatment of the underlying disease and systemic inflammatory state, and typically includes nonsteroidal antiinflammatory drugs, corticosteroids, disease-modifying drugs, and biologic therapies targeting tumor necrosis factor-alpha, interleukin-1, and interleukin-6...
February 2014: Rheumatic Diseases Clinics of North America
Jeannette S Messer, Stephen F Murphy, Mark F Logsdon, James P Lodolce, Wesley A Grimm, Sarah J Bartulis, Tiphanie P Vogel, Melisa Burn, David L Boone
OBJECTIVE: A common genetic coding variant in the core autophagy gene ATG16L1 is associated with increased susceptibility to Crohn's disease (CD). The variant encodes an amino acid change in ATG16L1 such that the threonine at position 300 is substituted with an alanine (ATG16L1 T300A). How this variant contributes to increased risk of CD is not known, but studies with transfected cell lines and gene-targeted mice have demonstrated that ATG16L1 is required for autophagy, control of interleukin-1-β and autophagic clearance of intracellular microbes...
2013: BMJ Open
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