Man

Maria Cecilia Poli Harlowe

Assistant Professor

Universidad del Desarrollo

Santiago, Chile

Líneas de Investigación


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

Educación

  •  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

Experiencia Académica

  •   Academic Instructor Full Time

    Universidad de Chile

    Medicine

    Santiago, Chile

    2009 - 2014

  •   Assistant Professor Other

    Universidad del Desarrollo

    Medicine

    Santiago, Chile

    2017 - A la fecha

  •   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 - A la fecha

Experiencia Profesional

  •   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 - A la fecha

  •   Pediatra Inmunóloga y Reumatóloga Part Time

    Clínica Alemana de Santiago

    Santiago, Chile

    2018 - A la fecha

  •   Adjunct Associate Professor Other

    Baylor College of Medicine

    Houston, Estados Unidos

    2019 - A la fecha

Formación de Capital Humano


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.


Premios y Distinciones

  •   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)


 

Article (41)

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis
The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
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
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
Multisystem inflammatory syndrome in children and adults (MIS-C/A): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data
Multisystem inflammatory syndrome in children and adults (MIS-C/A): definition guidelines for data collection, analysis, and presentation of immunization safety data
Parámetros hematológicos y biomarcadores predictores de gravedad en Síndrome Inflamatorio Pediátrico Multisistémico asociado a SARS-CoV-2
Recommendations for the suspected diagnosis and management of Multisystemic Inflammatory Syndrome (MIS-C) in the context of a SARS-CoV-2 pandemic. April 2021
Refractory systemic juvenile idiopathic arthritis successfully treated with rapamycin
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
Compromiso cardiovascular en pacientes con Síndrome Inflamatorio Pediátrico Multisistémico, asociado a infección por SARS-CoV-2
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
First Report of Tocilizumab Use in a Cohort of Latin American Patients Hospitalized for Severe COVID-19 Pneumonia
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
Inmunodeficiencia Combinada Severa, reporte de pacientes chilenos diagnosticados durante el período 1999-2020
Pediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2 Treated with Tocilizumab
Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS)
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Latin American consensus on the supportive management of patients with severe combined immunodeficiency
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
Severe combined immunodeficiency: the time for newborn screening has come
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
New autoinflammatory diseases
2017 LASID Meeting Abstracts:Primary immunodeficiencies in Chile: Whole exome sequencing in a cohort of Chilean patients with undiagnosed PIDs.
Primary immunodeficiencies in Chile evaluated through ICD-10 coded hospital admissions
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Variation in Microbiome LPS Immunogenicity Contributes to Autoimmunity in Humans
IL-2 in the tumor microenvironment is necessary for Wiskott-Aldrich syndrome protein deficient NK cells to respond to tumors in vivo
LASID Meeting 2015: Immunological Evaluation of Patients Admitted with Invasive Bacterial Infections to Hospital de Niños Roberto del Rio in Santiago, Chile
Guia Clinica GES de Artritis Idiopática Juvenil 2014
Pneumoparotitis or pneumoparotid: A differential diagnosis to consider
MECANISMO DE ACCION DE ANTICONCEPTIVOS ORALES: ¿CUMPLEN LOS ACO DE BAJAS DOSIS CON EL OBJETIVO DE INHIBIR LA OVULACION?

Abstract (4)

Heterogeneity of Molecular Diagnoses and Outcomes in a Diverse Cohort of Patients with Hemophagocytic Lymphohistiocytosis
Pediatric Rheumatology Admissions in Chile, 2001-2010: Unavailability of a Pediatric Rheumatologist May Hinder a Correct Diagnosis
Dilemmas in Treatment for Wiskott Aldrich: Experience of One Center in Chile
Sinus Histiocytosis with Masive Lymphadenopathy Versus Alps in a Pediatric Patient

BookSection (2)

Chapter 23: Inmunodeficiencias Primarias y sistema respiratorio
Chapter 25: Deficit selectivo de anticuerpos con inmunoglobulinas normales

ConferencePoster (6)

2017 LASID Meeting Abstracts: NF-κB2 mutation in a girl with early onset CVID, alopecia totalis and Functional NK cell deficiency.
Combined Immunodeficiency and neonatal onset autoimmunity in a patient with a novel mutation in WASF2 (Oral presentation )
Specific Antibody Deficiency in Chilean Asthmatic Children 5-15 year old (Oral Presentation)
Early Autoinmune Disease in Wiskott Aldrich Patients
Specific Pneumococcal Antibody Deficiency: Variable clinical presentation in 4 pediatric patients
Wilms Tumor in a Wiskott Aldrich Patient

Proyecto (8)

Functional Genomics in Autoinflammatory DIseases
Mecanismos inmunológicos protectores y biomarcadores de respuesta inmune en COVID19: Identificación de dianas terapéuticas para la recomendación de terapias inmunomoduladoras de uso precoz.
Deciphering the mechanisms of disease and therapeutic targets for Proteasome maturation protein (POMP)-related autoinflammation and Immune dysregulation
Primary Immunodeficiency
Identification of Primary Immunodeficiencies in patients with persistent Asthma
“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”.
Biomarkers for identification Chilean infants at risk for respiratory syncytial virus (RSV) and rhinovirus (RV)- induced severe acute lower respiratory infection
Efectos de celecoxib (celebra®) o naproxeno en la presión sanguínea en pacientes pediátricos con artritis idiopática juvenil

Review (2)

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
Repercussions of inborn errors of immunity on growth
58
Maria Poli

Assistant Professor

Pediatrics

Universidad del Desarrollo

Santiago, Chile

4
Lorena Tapia

Profesora Asociada

Departamento de Pediatría y Cirugía Infantil Norte

Universidad de Chile

Santiago, Chile

3
Arturo Borzutzky

Chief; Associate Professor

Department of Pediatric Infectious Diseases and Immunology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

2
Rodrigo Hoyos

Profesor Asistente

Enfermedades Infecciosas e Inmunología Pediátrica

Escuela de Medicina, Pontificia Universidad Católica de Chile

Santiago, Chile

2
Maria Repetto

Profesor Titular

Center for Genetics and Genomics

FACULTAD DE MEDICINA CLINICA ALEMANA-UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

1
Macarena Tejos

Trainee (PhD Student)

Pontificia Universidad Católica de Chile

Santiago, Chile

1
Luis Venegas

Bioquímico/investigador

Anatomía Patológica

Clínica Alemana de Santiago

Santiago, Chile

1
Maria Vial

Associate Professor/Profesor Asociado

Instituto de Ciencias e Innovación de Medicina

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

1
carolina iturriaga

Sub Directora Laboratorio de inmunología y Alergia Traslacional UC

Pediatria

Pontificia Universidad Católica de Chile

santiago, Chile

1
Paola Casanello

Profesor Asociado

División de Obstetricia y Ginecología

Pontificia Universidad Católica de Chile

Santiago, Chile