M. Poli

发表

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

A. Vanderver, Y. Crow, S. Orcesi, 2022, Arthritis & rheumatology.

Prevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis

G. Repetto, P. Casanello, A. Borzutzky, 2021, International journal of dermatology.

Variation in Microbiome LPS Immunogenicity Contributes to Autoimmunity in Humans

J. Orange, M. Poli, Jordan S. Orange, 2017, Pediatrics.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Lisa T. Emrick, Ivan K. Chinn, J. Rosenfeld, 2018, American journal of human genetics.

Deep immunophenotyping reveals biomarkers of multisystemic inflammatory syndrome in children in a Latin American cohort

C. Vial, L. Noguera, A. Bataszew, 2022, The Journal of Allergy and Clinical Immunology.

Deep immunophenotyping reveals biomarkers of MIS-C in a Latin American cohort

C. Vial, L. Noguera, J. Hormázabal, 2022, Journal of Allergy and Clinical Immunology.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Andrew J. Oler, Smita Y. Patel, Ivan K. Chinn, 2019, The Journal of allergy and clinical immunology.

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

Ivan K. Chinn, J. Lupski, J. Orange, 2022, JCI insight.

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

B. Lambrecht, A. Fischer, E. López-Granados, 2020, Journal of Allergy and Clinical Immunology.

Multisystem inflammatory syndrome in children and adults (MIS-C/A): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data

P. Moceri, K. Top, N. Wood, 2021, Vaccine.

Functional genetics in inborn errors of immunity

Emma Rey-Jurado, M. Poli, 2021 .

Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

M. Askenazi, L. Notarangelo, S. Holland, 2022, Nature Medicine.

Multi-omics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19

Andrew J. Oler, U. Mudunuri, M. Askenazi, 2021, medRxiv.

Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, The Journal of allergy and clinical immunology.

HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related auto-inflammatory disease.

J. Orange, L. Notarangelo, R. Krance, 2021, Blood.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Andrew J. Oler, Ivan K. Chinn, J. Lupski, 2020, Science.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, Frontiers in Pediatrics.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, Blood.

New autoinflammatory diseases

M. Poli, M. Cecilia Poli, 2018, Current opinion in pediatrics.

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

Ivan K. Chinn, J. Orange, L. Forbes, 2019, Front. Pediatr..

Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24

K. Rogers, E. Krüger, S. Masters, 2022, Science Immunology.

[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period].

R. Hoyos-Bachiloglu, A. Borzutzky, C. Casado, 2020, Revista chilena de pediatria.

Autoantibodies Against Proteins Previously Associated With Autoimmunity in Adult and Pediatric Patients With COVID-19 and Children With MIS-C

L. Notarangelo, K. Dobbs, J. Chiorini, 2022, Frontiers in Immunology.

Autoantibodies Detected in MIS-C Patients due to Administration of Intravenous Immunoglobulin

L. Notarangelo, K. Dobbs, J. Chiorini, 2021, medRxiv.

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

A. Vanderver, Y. Crow, S. Orcesi, 2022, Annals of the Rheumatic Diseases.

A Third Dose of SARS-CoV-2 mRNA Vaccine Improves Immune Response in Chronic Kidney Disease Patients

C. Vial, Javiera de la Cruz, Emma Rey-Jurado, 2023, Vaccines.

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Andrew J. Oler, Ivan K. Chinn, J. Lupski, 2019, bioRxiv.

Multisystem inﬂammatory syndrome in children and adults (MIS-C/A): Case deﬁnition & guidelines for data collection, analysis, and presentation of immunization safety data

P. Moceri, K. Top, N. Wood, 2021 .

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

Ivan K. Chinn, J. Lupski, S. Jhangiani, 2019, Front. Pediatr..

First Report of Tocilizumab Use in a Cohort of Latin American Patients Hospitalized for Severe COVID-19 Pneumonia

M. Iruretagoyena, M. Poli, O. Valenzuela, 2020, Frontiers in Medicine.

Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C)

L. Notarangelo, K. Dobbs, D. Schwartz, 2022, Annals of the Rheumatic Diseases.

Refractory systemic juvenile idiopathic arthritis successfully treated with rapamycin.

R. Hoyos-Bachiloglu, A. Borzutzky, S. Concha, 2021, Rheumatology.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

Proteasome disorders and inborn errors of immunity

M. Poli, M. Cecilia Poli, 2023, Immunological reviews.

Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or atopic disease

Andrew J. Oler, Ivan K. Chinn, S. Nejentsev, 2019 .

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

A. Pagnamenta, J. Lupski, J. Meiler, 2020, medRxiv.