M
M. Cecilia Poli
Researcher at Universidad del Desarrollo
Publications - 23
Citations - 1008
M. Cecilia Poli is an academic researcher from Universidad del Desarrollo. The author has contributed to research in topics: Medicine & Immune system. The author has an hindex of 7, co-authored 13 publications receiving 428 citations. Previous affiliations of M. Cecilia Poli include Boston Children's Hospital & Baylor College of Medicine.
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Journal ArticleDOI
Coronavirus Disease 2019 in patients with inborn errors of immunity: an international study.
Isabelle Meyts,Giorgia Bucciol,Isabella Quinti,Bénédicte Neven,Alain Fischer,Elena Seoane,Eduardo López-Granados,Carla Gianelli,Angel Robles-Marhuenda,Pierre Yves Jeandel,Catherine Paillard,Vijay G. Sankaran,Vijay G. Sankaran,Yesim Yilmaz Demirdag,Vassilios Lougaris,Alessandro Aiuti,Alessandro Plebani,Cinzia Milito,Virgil A. S. H. Dalm,Kissy Guevara-Hoyer,Silvia Sánchez-Ramón,Liliana Bezrodnik,Federica Barzaghi,Luis Ignacio Gonzalez-Granado,Grant Hayman,Gulbu Uzel,Leonardo Oliveira Mendonça,Carlo Agostini,Giuseppe Spadaro,Raffaele Badolato,Annarosa Soresina,François Vermeulen,Cedric Bosteels,Bart N. Lambrecht,Michael A. Keller,Peter Mustillo,Roshini S. Abraham,Sudhir Gupta,Ahmet Ozen,Elif Karakoc-Aydiner,Safa Baris,Alexandra F. Freeman,Marco Yamazaki-Nakashimada,Selma Scheffler-Mendoza,Sara Elva Espinosa-Padilla,Andrew R. Gennery,Andrew R. Gennery,Stephen Jolles,Yazmin Espinosa,M. Cecilia Poli,Claire Fieschi,Fabian Hauck,Charlotte Cunningham-Rundles,Nizar Mahlaoui,Klaus Warnatz,Kathleen E. Sullivan,Stuart G. Tangye,Stuart G. Tangye +57 more
TL;DR: More than 30% of patients with IEI with SARS-CoV-2 infection had mild coronavirus disease 2019 (COVID-19) and risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients withIEI, including more younger patients.
Journal ArticleDOI
Multisystem inflammatory syndrome in children and adults (MIS-C/A): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data.
Tiphanie P. Vogel,Karina A. Top,Christos Karatzios,David C. Hilmers,Lorena I. Tapia,Pamela Moceri,Lisa Giovannini-Chami,Nicholas Wood,Rebecca E. Chandler,Nicola P. Klein,Elizabeth P. Schlaudecker,M. Cecilia Poli,Eyal Muscal,Flor M. Munoz +13 more
TL;DR: The Brighton Collaboration case definition of Multisystem Inflammatory Syndrome in Children and Adults (MIS-C/A) was developed by topic experts in the context of active development of vaccines for SARS-CoV-2 as discussed by the authors.
Journal ArticleDOI
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19
Keith Sacco,Riccardo Castagnoli,Svetlana Vakkilainen,Chien-Liang Liu,Ottavia M. Delmonte,Cihan Oguz,Ian Kaplan,Sara Alehashemi,Peter D. Burbelo,Farzana Bhuyan,Adriana Almeida de Jesus,Kerry Dobbs,Lindsey B. Rosen,A. Chen,Elana Shaw,Mikko S. Vakkilainen,Francesca Pala,Justin B. Lack,Yu Zhang,Danielle Fink,Vasilis Oikonomou,Andrew L. Snow,Clifton L. Dalgard,Jinguo Chen,Brian Sellers,Gina A. Montealegre Sanchez,Karyl S. Barron,Emma Rey-Jurado,Cecilia Vial,M. Cecilia Poli,Amelia Licari,Daniela Montagna,Gian Luigi Marseglia,Francesco Licciardi,Ugo Ramenghi,Valentina Discepolo,Andrea Lo Vecchio,Alfredo Guarino,Eli M. Eisenstein,Luisa Imberti,Alessandra Sottini,Andrea Biondi,Sayonara Pérez Mato,Dana Gerstbacher,M. Truong,Michael Stack,Mary Magliocco,Marita Bosticardo,Tomoki Kawai,Jeffrey Danielson,Tyler W. Hulett,Manor Askenazi,Shaohui Hu,Jeffrey I. Cohen,Helen C. Su,Douglas B. Kuhns,Michail S. Lionakis,Thomas M. Snyder,Steven M. Holland,Raphaela Goldbach-Mansky,John S. Tsang,Luigi D. Notarangelo +61 more
TL;DR: In this article , a longitudinal multi-institutional study was conducted to identify distinct immunopathological signatures in COVID-19 and MIS-C that might help better define the pathophysiology of these disorders and guide therapy.
Journal ArticleDOI
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Ivan K. Chinn,Ivan K. Chinn,Olive S. Eckstein,Olive S. Eckstein,Erin C. Peckham-Gregory,Erin C. Peckham-Gregory,Baruch R. Goldberg,Baruch R. Goldberg,Lisa R. Forbes,Lisa R. Forbes,Sarah K. Nicholas,Sarah K. Nicholas,Emily M. Mace,Emily M. Mace,Tiphanie P. Vogel,Tiphanie P. Vogel,Harshal Abhyankar,Maria I. Diaz,Helen E. Heslop,Robert A. Krance,Caridad Martinez,Trung C. Nguyen,Dalia Bashir,Jordana Goldman,Jordana Goldman,Asbjørg Stray-Pedersen,Asbjørg Stray-Pedersen,Asbjørg Stray-Pedersen,Luis A. Pedroza,M. Cecilia Poli,M. Cecilia Poli,M. Cecilia Poli,Juan C. Aldave-Becerra,Sean A. McGhee,Waleed Al-Herz,Aghiad Chamdin,Zeynep H. Coban-Akdemir,Shalini N. Jhangiani,Donna M. Muzny,Tram N. Cao,Tram N. Cao,Diana N. Hong,Diana N. Hong,Richard A. Gibbs,Richard A. Gibbs,James R. Lupski,Jordan S. Orange,Jordan S. Orange,Kenneth L. McClain,Kenneth L. McClain,Carl E. Allen,Carl E. Allen +51 more
TL;DR: In most patients with HLH, targeted sequencing of fHLH genes remains insufficient for identifying pathogenic mechanisms, and whole-exome sequencing, however, may identify specific therapeutic opportunities and affect hematopoietic stem cell transplantation options for these patients.
Journal ArticleDOI
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
M. Cecilia Poli,M. Cecilia Poli,M. Cecilia Poli,Frédéric Ebstein,Sarah K. Nicholas,Sarah K. Nicholas,Marietta M. de Guzman,Marietta M. de Guzman,Lisa R. Forbes,Ivan K. Chinn,Ivan K. Chinn,Emily M. Mace,Emily M. Mace,Tiphanie P. Vogel,Tiphanie P. Vogel,Alexandre F. Carisey,Alexandre F. Carisey,Felipe Benavides,Zeynep Coban-Akdemir,Richard A. Gibbs,Shalini N. Jhangiani,Donna M. Muzny,Claudia M.B. Carvalho,Deborah 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,Bret L. Bostwick,Jordan S. Orange,Jordan S. Orange +36 more
TL;DR: A unique hypo- and hyper-immune phenotype is defined and an immune dysregulation syndrome caused by frameshift mutations that escape NMD is reported, which is not reported in any primary immunodeficiencies, autoinflammatory syndromes, or autoimmune diseases.