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Maria Cecilia Poli Harlowe

Associate Professor

Universidad del Desarrollo

Lo Barnechea, Chile

Inborn errors of the immune system (Primary Immune Deficienciencies); Immunogenetics; Immune dysregulation; Autoinflammatory diseases; Rheumatologic Diseases; Hemophagocytic Lymphohystiocitosis; Wiskott Aldrich

M.D., Universidad de Los Andes. Chile, 2004
Specialist in Pediatrics, Universidad de Chile. Chile, 2008
Subspecialist in Rheumatology, Universidad de Chile. Chile, 2012
Immunology, Baylor College of Medicine. Estados Unidos, 2018

Academic Instructor Full Time

Universidad de Chile

Medicine

Santiago, Chile

2009 - 2014
Associate Professor Other

Universidad del Desarrollo

Medicine

Santiago, Chile

2017 - At present
Research Asssitant (PhD Student) Full Time

Baylor College of Medicine

Medicine

Houston, Texas, Estados Unidos

2014 - 2018
Adjunct Associate Professor Other

BAYLOR COLLEGE OF MEDICINE

Medicine

Houston, Texas, Estados Unidos

2019 - At present

Research assistant (PhD Student) Full Time

Baylor College of Medicine

Houston, Estados Unidos

2014 - 2018
Pediatric Immunology and Rheumatology Specialist Part Time

Hospital Roberto del Rio

Santiago, Chile

2013 - 2014
General Pedaitrics Part Time

Hospital Roberto del RIo

Santiago, Chile

2010 - 2013
General Pedaitrics Full Time

Hospital Jose Joaquin Aguirre

Santiago, Chile

2009 - 2010
Staff Pediatrician Part Time

Clinica Alemana de Santiago

Santiago, Chile

2013 - 2014
Specialist in Pediatrics Part Time

Clinica Santa Maria

Santiago, Chile

2009 - 2013
Staff Pediatrician Intensive Care Unit Part Time

Clinica Santa Maria

Santaigo, Chile

2007 - 2009
Pediatra Inmunóloga y Reumatóloga Part Time

Hospital Roberto Del Rio

Santiago, Chile

2019 - At present
Pediatra Inmunóloga y Reumatóloga Part Time

Clínica Alemana de Santiago

Santiago, Chile

2018 - At present
Adjunct Associate Professor Other

Baylor College of Medicine

Houston, Estados Unidos

2019 - At present

Graduated PhD Students
1) Valentina Jarur Chamy
Thesis Title:“Characterizing the molecular mechanisms of immune dysregulation in proteasome-related interferonopathies and other autoinflammatory diseases”.
Thesis Advisor: Cecilia Poli
Public defense date: 14 de Enero

Graduate Student in Training
1) Nixa Olivares
Thesis Title:“NK cell dysfunction in patients with Lymphoma”.
Thesis Advisor: Cecilia Poli
Estimated Graduation year: 2025

Post Doctoral Students

1) Emma Rey-Jurado
Post doc Project: Genetic diagnosis of patients with primary immunodeficiencies.

LASID-Baxter Fellowship Award

LASID

Chile, 2012

LASID- Fellowship award for the study of primary immunodeficiencies. This award was granted during my fellowship in Pediatric Immunology and Rheumatology to support my training specifically in primary immunodeficiencies for 2 years.
ESID Travel grant award

ESID

Chile, 2016

Travel award to present my research work that was selected for Oral presentation ( 2000 euros)


Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders Forbes, Lisa R.; Eckstein, Olive S.; Gulati, Nitya; Peckham-Gregory, Erin C.; Ozuah, Nmazuo W.; Lubega, Joseph; El-Mallawany, Nader K.; Agrusa, Jennifer E.; Poli, M. Cecilia; Vogel, Tiphanie P.; Chaimowitz, Natalia S.; Rider, Nicholas L.; Mace, Emily M.; Orange, Jordan S.; Caldwell, Jason W.; Aldave-Becerra, Juan C.; Jolles, Stephen; Saettini, Francesco; Chong, Hey J.; Stray-Pedersen, Asbjorg; Heslop, Helen E.; Kamdar, Kala Y.; Rouce, R. Helen; Muzny, Donna M.; Jhangiani, Shalini N.; Gibbs, Richard A.; Coban-Akdemir, Zeynep H.; Lupski, James R.; McClain, Kenneth L.; Allen, Carl E.; Chinn, Ivan K. Article ISI JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19 Sacco, Keith; Castagnoli, Riccardo; Vakkilainen, Svetlana; Liu, Can; Delmonte, Ottavia M.; Oguz, Cihan; Kaplan, Ian M.; Alehashemi, Sara; Burbelo, Peter D.; Bhuyan, Farzana; de Jesus, Adriana A.; Dobbs, Kerry; Rosen, Lindsey B.; Cheng, Aristine; Shaw, Elana; Vakkilainen, Mikko S.; Pala, Francesca; Lack, Justin; Zhang, Yu; Fink, Danielle L.; Oikonomou, Vasileios; Snow, Andrew L.; Dalgard, Clifton L.; Chen, Jinguo; Sellers, Brian A.; Sanchez, Gina A. Montealegre; Barron, Karyl; Rey-Jurado, Emma; ; Vial, Cecilia; Poli, Maria Cecilia; Licari, Amelia; Montagna, Daniela; Marseglia, Gian Luigi; Licciardi, Francesco; Ramenghi, Ugo; Discepolo, Valentina; Lo Vecchio, Andrea; Guarino, Alfredo; Eisenstein, Eli M.; Imberti, Luisa; Sottini, Alessandra; Biondi, Andrea; Mato, Sayonara; Gerstbacher, Dana; Truong, Meng; Stack, Michael A.; Magliocco, Mary; Bosticardo, Marita; Kawai, Tomoki; Danielson, Jeffrey J.; Hulett, Tyler; Askenazi, Manor; Hu, Shaohui; Cohen, Jeffrey, I; Su, Helen C.; Kuhns, Douglas B.; Lionakis, Michail S.; Snyder, Thomas M.; Holland, Steven M.; Goldbach-Mansky, Raphaela; Tsang, John S.; Notarangelo, Luigi D.; NIAID Immune Response Covid Grp; Chile MIS-C Grp; Pavia Pediat COVID-19 Grp Article ISI NATURE MEDICINE (2022)
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis Cardenas, Geovanna V.; Iturriaga, Carolina; Hernandez, Caroll D.; Tejos-Bravo, Macarena; Perez-Mateluna, Guillermo; Cabalin, Carolina; Urzua, Marcela; Venegas-Salas, Luis F.; Fraga, Juan P.; Rebolledo, Boris; Poli, Maria C.; Repetto, Gabriela M.; Casanello, Paola; Castro-Rodriguez, Jose A.; Borzutzky, Arturo Article ISI INTERNATIONAL JOURNAL OF DERMATOLOGY (2022)
The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS Gedik, Kader Cetin; Lamot, Lovro; Romano, Micol; Demirkaya, Erkan; Piskin, David; Torreggiani, Sofia; Adang, Laura A.; Armangue, Thais; Barchus, Kathe; Cordova, Devon R.; Crow, Yanick J.; Dale, Russell C.; Durrant, Karen L.; Eleftheriou, Despina; Fazzi, Elisa M.; Gattorno, Marco; Gavazzi, Francesco; Hanson, Eric P.; Lee-Kirsch, Min Ae; Sanchez, Gina A. Montealegre; Neven, Benedicte; Orcesi, Simona; Ozen, Seza; Poli, M. Cecilia; Schumacher, Elliot; Tonduti, Davide; Uss, Katsiaryna; Aletaha, Daniel; Feldman, Brian M.; Vanderver, Adeline; Brogan, Paul A.; Goldbach-Mansky, Raphaela Article ISI ANNALS OF THE RHEUMATIC DISEASES (2022)
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS Gedik, Kader Cetin; Lamot, Lovro; Romano, Micol; Demirkaya, Erkan; Piskin, David; Torreggiani, Sofia; Adang, Laura A.; Armangue, Thais; Barchus, Kathe; Cordova, Devon R.; Crow, Yanick J.; Dale, Russell C.; Durrant, Karen L.; Eleftheriou, Despina; Fazzi, Elisa M.; Gattorno, Marco; Gavazzi, Francesco; Hanson, Eric P.; Lee-Kirsch, Min Ae; Sanchez, Gina A. Montealegre; Neven, Benedicte; Orcesi, Simona; Ozen, Seza; Cecilia Poli, M.; Schumacher, Elliot; Tonduti, Davide; Uss, Katsiaryna; Aletaha, Daniel; Feldman, Brian M.; Vanderver, Adeline; Brogan, Paul A.; Goldbach-Mansky, Raphaela Article ISI ARTHRITIS & RHEUMATOLOGY (2022)
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency Saettini, Francesco; Poli, Cecilia; Vengoechea, Jaime; Bonanomi, Sonia; Orellana, Julio C.; Fazio, Grazia; Rodriguez, Fred H.; Noguera, Loreani P.; Booth, Claire; Jarur-Chamy, Valentina; Shams, Marissa; Iascone, Maria; Vukic, Maja; Gasperini, Serena; Quadri, Manuel; Barroeta Seijas, Amairelys; Rivers, Elizabeth; Mauri, Mario; Badolato, Raffaele; Cazzaniga, Gianni; Bugarin, Cristina; Gaipa, Giuseppe; Kroes, Wilma G. M.; Moratto, Daniele; van Oostaijen-ten Dam, Monique M.; Baas, Frank; van der Maarel, Silvère; Piazza, Rocco; Coban-Akdemir, Zeynep H.; Lupski, James R.; Yuan, Bo; Chinn, Ivan K.; Daxinger, Lucia; Biondi, Andrea Article BLOOD (2021)
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria; Ebrahimi-Fakhari, Darius Article ISI HUMAN MUTATION (2021)
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study Meyts, Isabelle; Bucciol, Giorgia; Quinti, Isabella; Neven, Bénédicte; Fischer, Alain; Seoane, Elena; Lopez-Granados, Eduardo; Gianelli, Carla; Robles-Marhuenda, Angel; Jeandel, Pierre-Yves; Paillard, Catherine; Sankaran, Vijay G.; Demirdag, Yesim Yilmaz; Lougaris, Vassilios; Aiuti, Alessandro; Plebani, Alessandro; Milito, Cinzia; Dalm, Virgil ASH.; Guevara-Hoyer, Kissy; Sánchez-Ramón, Silvia; Bezrodnik, Liliana; Barzaghi, Federica; Gonzalez-Granado, Luis Ignacio; Hayman, Grant R.; Uzel, Gulbu; Mendonça, Leonardo Oliveira; Agostini, Carlo; Spadaro, Giuseppe; Badolato, Raffaele; Soresina, Annarosa; Vermeulen, François; Bosteels, Cedric; Lambrecht, Bart N.; Keller, Michael; Mustillo, Peter J.; Abraham, Roshini S.; Gupta, Sudhir; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Freeman, Alexandra F.; Yamazaki-Nakashimada, Marco; Scheffler-Mendoza, Selma; Espinosa-Padilla, Sara; Gennery, Andrew R.; Jolles, Stephen; Espinosa, Yazmin; Poli, M. Cecilia; Fieschi, Claire; Hauck, Fabian; Cunningham-Rundles, Charlotte; Mahlaoui, Nizar; Warnatz, Klaus; Sullivan, Kathleen E.; Tangye, Stuart G. Article Journal of Allergy and Clinical Immunology (2021)
HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease Martinez, Caridad; Ebstein, Frederic; Nicholas, Sarah K.; De Guzman, Marietta; Forbes, Lisa R.; Delmonte, Ottavia M.; Bosticardo, Marita; Castagnoli, Riccardo; Krance, Robert; Notarangelo, Luigi D.; Krueger, Elke; Orange, Jordan S.; Poli, M. Cecilia Article ISI BLOOD (2021)
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature Contreras, Josefina Longeri; Ladino, Mabel A.; Aranguiz, Katherine; Mendez, Gonzalo P.; Coban-Akdemir, Zeynep; Yuan, Bo; Gibbs, Richard A.; Burrage, Lindsay C.; Lupski, James R.; Chinn, Ivan K.; Vogel, Tiphanie P.; Orange, Jordan S.; Poli, M. Cecilia Article ISI FRONTIERS IN PEDIATRICS (2021)
Multisystem inflammatory syndrome in children and adults (MIS-C/A): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data Vogel, Tiphanie P.; Top, Karina A.; Karatzios, Christos; Hilmers, David C.; Tapia, Lorena I.; Moceri, Pamela; Giovannini-Chami, Lisa; Wood, Nicholas; Chandler, Rebecca E.; Klein, Nicola P.; Schlaudecker, Elizabeth P.; Poli, M. Cecilia; Muscal, Eyal; Munoz, Flor M. Article Vaccine (2021)
Multisystem inflammatory syndrome in children and adults (MIS-C/A): definition & guidelines for data collection, analysis, and presentation of immunization safety data Vogel, Tiphanie P.; Top, Karina A.; Karatzios, Christos; Hilmers, David C.; Tapia, Lorena, I; Moceri, Pamela; Giovannini-Chami, Lisa; Wood, Nicholas; Chandler, Rebecca E.; Klein, Nicola P.; Schlaudecker, Elizabeth P.; Cecilia Poli, M.; Muscal, Eyal; Munoz, Flor M. Article ISI VACCINE (2021)
Parámetros hematológicos y biomarcadores predictores de gravedad en Síndrome Inflamatorio Pediátrico Multisistémico asociado a SARS-CoV-2 Verdugo, Patricia; Alvarez, Patricia; Montes, Vicente; Poli, M. Cecilia; Tapia, Lorena; Cofré, Fernanda; Soto, Verónica; Mackenney, Jorge; Carvajal, Cristián; Acevedo, Valeria Article REVISTA CHILENA DE PEDIATRIA (2021)
Recomendaciones para la sospecha diagnóstica y manejo del Síndrome Inflamatorio Multisistémico (SIM-COVID-19) en contexto pandemia SARS-CoV-2. Abril 2021 Giannina Izquierdo; Fernanda Cofré; Cecilia Poli; Luis Delpiano; Natalia Conca; Patricia Verdugo; Patricia Alvarez; Valeria Acevedo; Lorena Tapia Article SCIELO REVISTA CHILENA DE INFECTOLOGIA (2021)
Recommendations for the suspected diagnosis and management of Multisystemic Inflammatory Syndrome (MIS-C) in the context of a SARS-CoV-2 pandemic. April 2021 Izquierdo, Giannina; Cofre, Fernanda; Poli, Cecilia; Delpiano, Luis; Conca, Natalia; Verdugo, Patricia; Alvarez, Patricia; Acevedo, Valeria; Tapia, Lorena Article ISI REVISTA CHILENA DE INFECTOLOGIA (2021)
Refractory systemic juvenile idiopathic arthritis successfully treated with rapamycin Concha, Sara; Rey-Jurado, Emma; Poli, M Cecilia; Hoyos-Bachiloglu, Rodrigo; Borzutzky, Arturo Article Rheumatology (2021)
Clinical manifestations of SARS-CoV-2 infection in children in the middle of pandemic season in a pediatric tertiary center. Report of local COVID Clinical Committee, Hospital de Niños Roberto del Río, Santiago Chile Cofré, Fernanda; Mackenney, Jorge; Poli, Cecilia; Riquelme, Maryel; Carvajal, Cristian; Álvarez, Patricia; Acevedo, Valeria; Valenzuela, M. Lidia; Verdugo, Patricia; Varas, Mónica; Tapia, Lorena Article ISI REVISTA CHILENA DE INFECTOLOGIA (2020)
Compromiso cardiovascular en pacientes con Síndrome Inflamatorio Pediátrico Multisistémico, asociado a infección por SARS-CoV-2 Álvarez, Patricia; Acevedo, Valeria; Valenzuela, María Lidia; Montes, Vicente; Aroca, Patricia; García, Carla; Campos, Carolina; Koch, Katherine; González, Soledad; Poli, Cecilia; Verdugo, Patricia; Cofré, Fernanda; Mackenney, Jorge; Tapia, Lorena Article SCIELO Revista chilena de cardiología (2020)
Espectro Clinico de la Infeccion por Virus SARS-Co-V2 en un centro de referencia pediátrico en plena pandemia. Reporte del Comité Clínico COVID, Hospital de Niños Roberto del Rio, Santiago, Chile Cofré, Fernanda; Mackenney, J.; Poli, M. Cecilia; Riquelme, Maryel; Carvajal, Cristian; Alvarez, Patricia; Acevedo, Valeria; Valenzuela, Lidia; Verdugo, Patricia; Varas, Mónica; Tapia, Lorena Article REVISTA CHILENA DE INFECTOLOGIA (2020)
Espectro clínico de la infección en ni?os por virus SARS-CoV-2 en un centro de referencia pediátrico en plena pandemia. Reporte del Comité Clínico COVID, Hospital de Ni?os Roberto del Río, Santiago Chile Fernanda Cofré; Jorge Mackenney; Cecilia Poli; Maryel Riquelme; Cristian Carvajal; Patricia Álvarez; Valeria Acevedo; M. Lidia Valenzuela; Patricia Verdugo; Mónica Varas; Lorena Tapia Article SCIELO REVISTA CHILENA DE INFECTOLOGIA (2020)
First Report of Tocilizumab Use in a Cohort of Latin American Patients Hospitalized for Severe COVID-19 Pneumonia Valenzuela, Omar; Ibanez, Sebastian; Poli, M. Cecilia; Roessler, Patricia; Aylwin, Mabel; Roizen, Gigia; Iruretagoyena, Mirentxu; Agar, Vivianne; Donoso, Javiera; Fierro, Margarita; Montes, Jose Article ISI FRONTIERS IN MEDICINE (2020)
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease Cook, Sarah A.; Comrie, William A.; Poli, M. Cecilia; Similuk, Morgan; Oler, Andrew J.; Faruqi, Aiman J.; Kuhns, Douglas B.; Yang, Sheng; Vargas-Hernandez, Alexander; Carisey, Alexandre F.; Fournier, Benjamin; Anderson, D. Eric; Price, Susan; Smelkinson, Margery; Abou Chahla, Wadih; Forbes, Lisa R.; Mace, Emily M.; Cao, Tram N.; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Orange, Jordan S.; Cuvelier, Geoffrey D. E.; Al Hassani, Moza; Al Kaabi, Nawal; Al Yafei, Zain; Jyonouchi, Soma; Raje, Nikita; Caldwell, Jason W.; Huang, Yanping; Burkhardt, Janis K.; Latour, Sylvain; Chen, Baoyu; ElGhazali, Gehad; Rao, V. Koneti; Chinn, Ivan K.; Lenardo, Michael J. Article ISI SCIENCE (2020)
Inmunodeficiencia Combinada Severa, reporte de pacientes chilenos diagnosticados durante el período 1999-2020 Hoyos-Bachiloglu, Rodrigo; Rojas, Jorge; Borzutzky, Arturo; Hernández, Pamela; Vinet, Ana María; Bustos, Paula; Fernández, Fabiola; Lagos, Macarena; Strickler, Alexis; Marinovic, María Angélica; Casado, Cristina; Poli, María Cecilia; King, Alejandra Article Revista chilena de pediatría (2020)
Pediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2 Treated with Tocilizumab Nino-Taravilla, Carmen; Espinosa-Vielma, Yazmin P.; Otaola-Arca, Hugo; Poli-Harlowe, Cecilia; Tapia, Lorena, I; Ortiz-Fritz, Paula Article ISI PEDIATRIC REPORTS (2020)
Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS) Ebstein, Frederic; Poli Harlowe, Maria Cecilia; Studencka-Turski, Maja; Kruger, Elke Article ISI SCOPUS FRONTIERS IN IMMUNOLOGY (2019)
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease Dorjbal, B; Stinson, JR; Ma, CA; Weinreich, MA; Miraghazadeh, B; Hartberger, JM; Frey-Jakobs, S; Weidinger, S; Moebus, L; Franke, A; Schaffer, AA; Bulashevska, A; Fuchs, S; Ehl, S; Limaye, S; Arkwright, PD; Briggs, TA; Langley, C; Bethune, C; Whyte, AF; Alachkar, H; Nejentsev, S; DiMaggio, T; Nelson, CG; Stone, KD; Nason, M; Brittain, EH; Oler, AJ; Veltri, DP; Leahy, TR; Conlon, N; Poli, MC; Borzutzky, A; Cohen, JI; Davis, J; Lambert, MP; Romberg, N; Sullivan, KE; Paris, K; Freeman, AF; Lucas, L; Chandrakasan, S; Savic, S; Hambleton, S; Patel, SY; Jordan, MB; Theos, A; Lebensburger, J; Atkinson, TP; Torgerson, TR; Chinn, IK; Milner, JD; Grimbacher, B; Cook, MC; Snow, AL Article ISI JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)
Latin American consensus on the supportive management of patients with severe combined immunodeficiency Bustamante Ogando, Juan Carlos; Partida Gaytan, Armando; Aldave Becerra, Juan Carlos; Alvarez Cardona, Aristoteles; Bezrodnik, Liliana; borzutzky, arturo; Galicia, Lizbeth Blancas; Cabanillas, Diana; Condino-Neto, Antonio; Ranero, Agustin De Colsa; Padilla, Sara Espinosa; Fernandes, Juliana Folloni; Garcia Campos, Jorge Alberto; Tello, Hector Gomez; Gonzalez Serrano, Maria Edith; Gutierrez Hernandez, Alonso; Hernandez Bautista, Victor Manuel; Escoto, Gabriele Ivankovich; King, Alejandra; Mazzucchelli, Juliana Lessa; Llamas Guillen, Beatriz Adriana; Lugo Reyes, Saul Oswaldo; Moreno Espinosa, Sarbelio; Oleastro, Matias; Mendoza, Francisco Otero; Poli Harlowe, Maria Cecilia; Porras, Oscar; Ramirez Uribe, Nideshda; Regairaz, Lorean; Larrauri, Francisco Rivas; Saracho Weber, Federico Jose; Grumach, Anete S.; Boone, Tamara Staines; Costa-Carvalho, Beatriz Tavares; Yamazaki Nakashimada, Marco Antonio; Espinosa Rosales, Francisco Javier Article ISI SCOPUS JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)
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-Hernandez, 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.; Cecilia Poli, Maria Article ISI SCOPUS FRONTIERS IN PEDIATRICS (2019)
Severe combined immunodeficiency: the time for newborn screening has come Hoyos-Bachiloglu, Rodrigo; Sotomayor F, Cristian; Poli H, Cecilia Article WOS-ESCI SCOPUS Revista chilena de pediatría (2019)
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis Chinn, Ivan K.; Eckstein, Olive S.; Peckham-Gregory, Erin C.; Goldberg, Baruch R.; Forbes, Lisa R.; Nicholas, Sarah K.; Mace, Emily M.; Vogel, Tiphanie P.; Abhyankar, Harshal A.; Diaz, Maria I.; Heslop, Helen E.; Krance, Robert A.; Martinez, Caridad A.; Nguyen, Trung C.; Bashir, Dalia A.; Goldman, Jordana R.; Stray-Pedersen, Asbjorg; Pedroza, Luis A.; Poli, M. Cecilia; Aldave-Becerra, Juan C.; McGhee, Sean A.; Al-Herz, Waleed; Chamdin, Aghiad; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Muzny, Donna M.; Cao, Tram N.; Hong, Diana N.; Gibbs, Richard A.; Lupski, James R.; Orange, Jordan S.; McClain, Kenneth L.; Allen, Carl E. Article ISI SCOPUS BLOOD (2018)
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome Poli, M. Cecilia; Ebstein, Frédéric; Nicholas, Sarah K.; de Guzman, Marietta M.; Forbes, Lisa R.; Chinn, Ivan K.; Mace, Emily M.; Vogel, Tiphanie P.; Carisey, Alexandre F.; Benavides, Felipe; Coban-Akdemir, Zeynep H.; Gibbs, Richard A.; Jhangiani, Shalini N.; Muzny, Donna M.; Carvalho, Claudia M.B.; Schady, Deborah A.; Jain, Mahim; Rosenfeld, Jill A.; Emrick, Lisa; Lewis, Richard A.; Lee, Brendan; Zieba, Barbara A.; Küry, Sébastien; Krüger, Elke; Lupski, James R.; Bostwick, Bret L.; Orange, Jordan S. Article ISI SCOPUS AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease Dorjbal, Batsukh; Stinson, Jeffrey R.; Ma, Chi A.; Weinreich, Michael A.; Miraghazadeh, Bahar; Hartberger, Julia M.; Frey-Jakobs, Stefanie; Weidinger, Stephan; Moebus, Lena; Franke, Andre; Schäffer, Alejandro A.; Bulashevska, Alla; Fuchs, Sebastian; Ehl, Stephan; Limaye, Sandhya; Arkwright, Peter D.; Briggs, Tracy A.; Langley, Claire; Bethune, Claire; Whyte, Andrew F.; Alachkar, Hana; Nejentsev, Sergey; DiMaggio, Thomas; Nelson, Celeste G.; Stone, Kelly D.; Nason, Martha; Brittain, Erica H.; Oler, Andrew J.; Veltri, Daniel P.; Leahy, T. Ronan; Conlon, Niall; Poli, Maria C.; borzutzky, arturo; Cohen, Jeffrey I.; Davis, Joie; Lambert, Michele P.; Romberg, Neil; Sullivan, Kathleen E.; Paris, Kenneth; Freeman, Alexandra F.; Lucas, Laura; Chandrasakan, Shanmuganathan; Savic, Sinisa; Hambleton, Sophie; Patel, Smita Y.; Jordan, Michael B.; Theos, Amy; Lebensburger, Jeffrey; Atkinson, T. Prescott; Torgerson, Troy R.; Chinn, Ivan K.; Milner, Joshua D.; Grimbacher, Bodo; Cook, Matthew C.; Snow, Andrew L. Article SCOPUS Journal of Allergy and Clinical Immunology (2018)
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles Coban-Akdemir, Zeynep; White, Janson J.; Song, Xiaofei; Jhangiani, Shalini N.; Fatih, Jawid M.; Gambin, Tomasz; Bayram, Yavuz; Chinn, Ivan K.; Karaca, Ender; Punetha, Jaya; Poli, Cecilia; Boerwinkle, Eric; Shaw, Chad A.; Orange, Jordan S.; Gibbs, Richard A.; Lappalainen, Tuuli; Lupski, James R.; Carvalho, Claudia M. B.; Baylor-Hopkins Ctr Mendelian Genom Article ISI SCOPUS AMERICAN JOURNAL OF HUMAN GENETICS (2018)
New autoinflammatory diseases Poli M.C. Article ISI SCOPUS Current opinion in pediatrics (2018)
2017 LASID Meeting Abstracts:Primary immunodeficiencies in Chile: Whole exome sequencing in a cohort of Chilean patients with undiagnosed PIDs. Poli, M. Cecilia; Chinn, Ivan; Bostwick, Bret; Rider, Nicholas; Mace, Emily; King, Alejandra; Lagos, Macarena; Talesnik, Eduardo; Borzutzky, Arturo; Gonzalez, Benito; Inostroza, Jaime; Sorensen, Ricardo U.; Lupski, James R.; Orange, Jordan S. Article ISI Journal of Clinical Immunology (2017)
Primary immunodeficiencies in Chile evaluated through ICD-10 coded hospital admissions Poli, C.; Hoyos-Bachiloglu, R.; Borzutzky, A. Article Allergologia et Immunopathologia (2017)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders Stray-Pedersen A.; Sorte H.S.; Samarakoon P.; Gambin T.; Chinn I.K.; Coban Akdemir Z.H.; Erichsen H.C.; Forbes L.R.; Gu S.; Yuan B.; Jhangiani S.N.; Muzny D.M.; Rødningen O.K.; Sheng Y.; Nicholas S.K.; Noroski L.M.; Seeborg F.O.; Davis C.M.; Canter D.L.; Mace E.M.; Vece T.J.; Allen C.E.; Abhyankar H.A.; Boone P.M.; Beck C.R.; Wiszniewski W.; Fevang B.; Aukrust P.; Tjønnfjord G.E.; Gedde-Dahl T.; Hjorth-Hansen H.; Dybedal I.; Nordøy I.; Jørgensen S.F.; Abrahamsen T.G.; Øverland T.; Bechensteen A.G.; Skogen V.; Osnes L.T.N.; Kulseth M.A.; Prescott T.E.; Rustad C.F.; Heimdal K.R.; Belmont J.W.; Rider N.L.; Chinen J.; Cao T.N.; Smith E.A.; Caldirola M.S.; Bezrodnik L.; Lugo Reyes S.O.; Espinosa Rosales F.J.; Guerrero-Cursaru N.D.; Pedroza L.A.; Poli C.M.; Franco J.L.; Trujillo Vargas C.M.; Aldave Becerra J.C.; Wright N.; Issekutz T.B.; Issekutz A.C.; Abbott J.; Caldwell J.W.; Bayer D.K.; Chan A.Y.; Aiuti A.; Cancrini C.; Holmberg E.; West C.; Burstedt M.; Karaca E.; Yesil G.; Artac H.; Bayram Y.; Atik M.M.; Eldomery M.K.; Ehlayel M.S.; Jolles S.; Flatø B.; Bertuch A.A.; Hanson I.C.; Zhang V.W.; Wong L.-J.; Hu J.; Walkiewicz M.; Yang Y.; Eng C.M.; Boerwinkle E.; Gibbs R.A.; Shearer W.T.; Lyle R.; Orange J.S.; Lupski J.R. Article ISI SCOPUS JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)
Variation in Microbiome LPS Immunogenicity Contributes to Autoimmunity in Humans Poli, M. Cecilia; Orange, Jordan Article ISI PEDIATRICS (2017)
IL-2 in the tumor microenvironment is necessary for Wiskott-Aldrich syndrome protein deficient NK cells to respond to tumors in vivo Kritikou, Joanna S.; Dahlberg, Carin I. M.; Baptista, Marisa A. P.; Wagner, Arnika K.; Banerjee, Pinaki P.; Gwalani, Lavesh Amar; Poli, Cecilia; Panda, Sudeepta K.; Kärre, Klas; Kaech, Susan M.; Wermeling, Fredrik; Andersson, John; Orange, Jordan S.; Brauner, Hanna; Westerberg, Lisa S. Article ISI SCIENTIFIC REPORTS (2016)
LASID Meeting 2015: Immunological Evaluation of Patients Admitted with Invasive Bacterial Infections to Hospital de Niños Roberto del Rio in Santiago, Chile Acuña, Mirta; Poli, M. Cecilia; cofre, fernanda Article ISI Journal of Clinical Immunology (2015)
Guia Clinica GES de Artritis Idiopática Juvenil 2014 Aird, Alejandra; Borzutzky, Arturo; Aranguiz, Patricio; Barria, Raul; Lira, Luis; Lagos, Macarena; Ladino, Mabel; King, Alejandra; Hernandez, Paola; Gonzalez, Patricia; Gonzalez, Benito; Garces, Paola; Poli, M. Cecilia Article ISI SCIELO Revista Chilena de Reumatologia (2014)
Pneumoparotitis or pneumoparotid: A differential diagnosis to consider Moenne, K; Cordero J.; Poli C. Article ISI REVISTA CHILENA DE INFECTOLOGIA (2009)
MECANISMO DE ACCION DE ANTICONCEPTIVOS ORALES: ¿CUMPLEN LOS ACO DE BAJAS DOSIS CON EL OBJETIVO DE INHIBIR LA OVULACION? Maritza Busquets C; Jessica Preisler; Cecilia Poli Article SCIELO Revista chilena de obstetricia y ginecología (2002)


Heterogeneity of Molecular Diagnoses and Outcomes in a Diverse Cohort of Patients with Hemophagocytic Lymphohistiocytosis Chinn, IK; Goldberg, BR; Forbes, LR; Nicholas, SK; Mace, EM; Abhyankar, HA; Diaz, MI; Pedroza, LA; Poli, MC; McGhee, SA; Akdemir, ZC; Jhangiani, SN; Muzny, DM; Cao, TN; Gibbs, RA; Lupski, JR; Orange, JS; McClain, KL; Allen, CE Abstract ISI PEDIATRIC BLOOD & CANCER (2016)
Pediatric Rheumatology Admissions in Chile, 2001-2010: Unavailability of a Pediatric Rheumatologist May Hinder a Correct Diagnosis Poli C.; De la Puente, L; Hoyos-Bachiloglu, R; Cerda, J; Borzutzky, A Abstract ISI ARTHRITIS & RHEUMATOLOGY (2014)
Dilemmas in Treatment for Wiskott Aldrich: Experience of One Center in Chile Poli C. Abstract ISI JOURNAL OF CLINICAL IMMUNOLOGY (2012)
Sinus Histiocytosis with Masive Lymphadenopathy Versus Alps in a Pediatric Patient Poli C. Abstract ISI JOURNAL OF CLINICAL IMMUNOLOGY (2012)


Chapter 23: Inmunodeficiencias Primarias y sistema respiratorio Poli, M. Cecilia; Sorensen, Ricardo U.; Quezada, Arnoldo; Zenteno, Daniel BookSection (2013)
Chapter 25: Deficit selectivo de anticuerpos con inmunoglobulinas normales Sorensen, Ricardo U.; Poli, M. Cecilia; Quezada, Arnoldo; Zenteno, Daniel BookSection (2013)


2017 LASID Meeting Abstracts: NF-κB2 mutation in a girl with early onset CVID, alopecia totalis and Functional NK cell deficiency. Aird, Alejandra; Lagos, Macarena; King, Alejandra; Vargas-Hernandez, Alexander; Lupski, James R; Orange, Jordan S. ConferencePoster (2017)
Combined Immunodeficiency and neonatal onset autoimmunity in a patient with a novel mutation in WASF2 (Oral presentation ) Poli, M. Cecilia; Orange, Jordan S. ConferencePoster (2016)
Specific Antibody Deficiency in Chilean Asthmatic Children 5-15 year old (Oral Presentation) Poli, M. Cecilia; Gonzalez, Benito ConferencePoster (2013)
Early Autoinmune Disease in Wiskott Aldrich Patients Poli, M. Cecilia; King, Alejandra ConferencePoster (2011)
Specific Pneumococcal Antibody Deficiency: Variable clinical presentation in 4 pediatric patients Poli, M. Cecilia; Navarrete, Carmen L. ConferencePoster
Wilms Tumor in a Wiskott Aldrich Patient Poli, M. Cecilia; King, Alejandra ConferencePoster


Functional Genomics in Autoinflammatory DIseases Poli Harlowe, Maria Cecilia; VIAL, MARIA CECILIA; Repetto, Maria Gabriela Proyecto (2022)
Mecanismos inmunológicos protectores y biomarcadores de respuesta inmune en COVID19: Identificación de dianas terapéuticas para la recomendación de terapias inmunomoduladoras de uso precoz. Vial, Maria Cecilia; Cecilia Poli, Maria Proyecto (2020)
Deciphering the mechanisms of disease and therapeutic targets for Proteasome maturation protein (POMP)-related autoinflammation and Immune dysregulation Poli Harlowe, Maria Cecilia Proyecto (2018)
Primary Immunodeficiency Jeffrey Modell Foundation (To Dr. Jordan Orange) Proyecto 2018-2021 Tesista
Identification of Primary Immunodeficiencies in patients with persistent Asthma LASID-Baxter Fellowship (no tiene) Proyecto 2012-2013 Inv. Principal
“Estudio de fase IV, abierto y multicéntrico para evaluar la eficacia, seguridad y farmacocinética de GammaplexR en enfermedades de inmunodeficiencia primaria en niños y adolescentes”. Gamaplex (GMX04) Proyecto 2011-2012 Coinvestigador(a)
Biomarkers for identification Chilean infants at risk for respiratory syncytial virus (RSV) and rhinovirus (RV)- induced severe acute lower respiratory infection FONDEF (1100477) Proyecto 2010-2012 Coinvestigador(a)
Efectos de celecoxib (celebra®) o naproxeno en la presión sanguínea en pacientes pediátricos con artritis idiopática juvenil Pfeizer Proyecto 2009-2012 Coinvestigador(a)


Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature Boone, ATS; Chinn, IK; Alaez-Verson, C; Yamazaki-Nakashimada, MA; Carrillo-Sanchez, K; Garcia-Cruz, MDH; Poli, MC; Serrano, MEG; Torres, EAM; Zermeno, DM; Forbes, LR; Espinosa-Rosales, FJ; Espinosa-Padilla, SE; Orange, JS; Reyes, SOL Review ISI SCOPUS FRONTIERS IN PEDIATRICS (2019)
Repercussions of inborn errors of immunity on growth Goudouris E.S.; Segundo G.R.S.; Poli C. Review ISI SCOPUS JORNAL DE PEDIATRIA (2019)