Research Output

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Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

2022 , Carmelo Carmona-Rivera , Yu Zhang , Kerry Dobbs , Tovah E. Markowitz , Clifton L. Dalgard , Andrew J. Oler , Dillon R. Claybaugh , Deborah Draper , Meng Truong , Ottavia M. Delmonte , Francesco Licciardi , Ugo Ramenghi , Nicoletta Crescenzio , Luisa Imberti , Alessandra Sottini , Virginia Quaresima , Chiara Fiorini , Valentina Discepolo , Andrea Lo Vecchio , Alfredo Guarino , Luca Pierri , Andrea Catzola , Andrea Biondi , Paolo Bonfanti , POLI HARLOWE, MARIA CECILIA BERTA , Yasmin Espinosa , Camila Astudillo , REY JURADO, EMMA , VIAL COX, MARIA CECILIA , Javiera de la Cruz , Ricardo Gonzalez , Cecilia Pinera , Jacqueline W. Mays , Ashley Ng , Andrew Platt , Beth Drolet , John Moon , Edward W. Cowen , Heather Kenney , Sarah E. Weber , Riccardo Castagnoli , Mary Magliocco , Michael A. Stack , Gina Montealegre , Karyl Barron , Danielle L. Fink , Douglas B. Kuhns , Stephen M. Hewitt , Lisa M. Arkin , Daniel S. Chertow , Helen C. Su , Luigi D. Notarangelo , Mariana J. Kaplan

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

2022 , Matilde I. Conte , M. Cecilia Poli , Angelo Taglialatela , Giuseppe Leuzzi , Ivan K. Chinn , Sandra A. Salinas , Emma Rey-Jurado , Nixa Olivares , Liz Veramendi-Espinoza , Alberto Ciccia , James R. Lupski , Juan Carlos Aldave Becerra , Emily M. Mace , Jordan S. Orange

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Functional Genetics in Inborn Errors of Immunity

2021 , Emma Rey-Jurado , POLI HARLOWE, MARIA CECILIA BERTA

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

2023 , POLI HARLOWE, MARIA CECILIA BERTA , VIAL COX, MARIA CECILIA , REY JURADO, EMMA , Natalia González , CORTES SALINAS, LINA JIMENA , HORMAZABAL CASTILLO, JUAN PATRICIO , Carolina Ramírez-Riffo , Javiera de la Cruz , Camilo Ulloa

Chronic kidney disease (CKD) patients have an increased risk of morbidity and mortality following SARS-CoV-2 infection. Vaccination in these patients is prioritized, and monitoring of the immune response is paramount to define further vaccination strategies. This prospective study included a cohort of 100 adult CKD patients: 48 with kidney transplant (KT) and 52 on hemodialysis without prior COVID-19. The patients were assessed for humoral and cellular immune responses after four months of an anti-SARS-CoV-2 primary two-dose vaccination scheme (CoronaVac or BNT162b2) and one month after a booster third dose of BNT162b2 vaccine. We identified poor cellular and humoral immune responses in the CKD patients after a primary vaccination scheme, and these responses were improved by a booster. Robust polyfunctional CD4+ T cell responses were observed in the KT patients after a booster, and this could be attributed to a higher proportion of the patients having been vaccinated with homologous BNT162b2 schemes. However, even after the booster, the KT patients exhibited lower neutralizing antibodies, attributable to specific immunosuppressive treatments. Four patients suffered severe COVID-19 despite three-dose vaccination, and all had low polyfunctional T-cell responses, underscoring the importance of this functional subset in viral protection. In conclusion, a booster dose of SARS-CoV-2 mRNA vaccine in CKD patients improves the impaired humoral and cellular immune responses observed after a primary vaccination scheme.

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

2022 , REY JURADO, EMMA , Yazmin Espinosa , Camila Astudillo , CORTES SALINAS, LINA JIMENA , HORMAZABAL CASTILLO, JUAN PATRICIO , Fernanda Cofré , Cecilia Piñera , Loreani P. Noguera , Ricardo González , Alexander Bataszew , MUÑOZ VENTURELLI, PAULA ANDREA , Dona Benadof , Patricia Álvarez , Valeria Acevedo , VIAL CLARO, PABLO AGUSTIN , VIAL COX, MARIA CECILIA , POLI HARLOWE, MARIA CECILIA BERTA

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Multicenter Study to Determine the Immune Response to the Vaccine Against SARS COV-2, in Patients With Chronic Kidney Disease on Dialysis and Kidney Transplants

2022 , CAMILO ERNESTO ULLOA TESSER , POLI HARLOWE, MARIA CECILIA BERTA , REY JURADO, EMMA , VIAL COX, MARIA CECILIA , CORTES SALINAS, LINA JIMENA , HORMAZABAL CASTILLO, JUAN PATRICIO

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

2022 , Peter D. Burbelo , Riccardo Castagnoli , Chisato Shimizu , Ottavia M. Delmonte , Kerry Dobbs , Valentina Discepolo , Andrea Lo Vecchio , Alfredo Guarino , Francesco Licciardi , Ugo Ramenghi , REY JURADO, EMMA , VIAL COX, MARIA CECILIA , Gian Luigi Marseglia , Amelia Licari , Daniela Montagna , Camillo Rossi , Gina A. Montealegre Sanchez , Karyl Barron , Blake M. Warner , John A. Chiorini , Yazmin Espinosa , Loreani Noguera , Lesia Dropulic , Meng Truong , Dana Gerstbacher , Sayonara Mató , John Kanegaye , Adriana H. Tremoulet , Eli M. Eisenstein , Helen C. Su , Luisa Imberti , POLI HARLOWE, MARIA CECILIA BERTA , Jane C. Burns , Luigi D. Notarangelo , Jeffrey I. Cohen

The antibody profile against autoantigens previously associated with autoimmune diseases and other human proteins in patients with COVID-19 or multisystem inflammatory syndrome in children (MIS-C) remains poorly defined. Here we show that 30% of adults with COVID-19 had autoantibodies against the lung antigen KCNRG, and 34% had antibodies to the SLE-associated Smith-D3 protein. Children with COVID-19 rarely had autoantibodies; one of 59 children had GAD65 autoantibodies associated with acute onset of insulin-dependent diabetes. While autoantibodies associated with SLE/Sjögren’s syndrome (Ro52, Ro60, and La) and/or autoimmune gastritis (gastric ATPase) were detected in 74% (40/54) of MIS-C patients, further analysis of these patients and of children with Kawasaki disease (KD), showed that the administration of intravenous immunoglobulin (IVIG) was largely responsible for detection of these autoantibodies in both groups of patients. Monitoring in vivo decay of the autoantibodies in MIS-C children showed that the IVIG-derived Ro52, Ro60, and La autoantibodies declined to undetectable levels by 45-60 days, but gastric ATPase autoantibodies declined more slowly requiring >100 days until undetectable. Further testing of IgG and/or IgA antibodies against a subset of potential targets identified by published autoantigen array studies of MIS-C failed to detect autoantibodies against most (16/18) of these proteins in patients with MIS-C who had not received IVIG. However, Troponin C2 and KLHL12 autoantibodies were detected in 2 of 20 and 1 of 20 patients with MIS-C, respectively. Overall, these results suggest that IVIG therapy may be a confounding factor in autoantibody measurements in MIS-C and that antibodies against antigens associated with autoimmune diseases or other human proteins are uncommon in MIS-C.

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Product

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

2021 , VIAL COX, MARIA CECILIA , POLI HARLOWE, MARIA CECILIA BERTA , REY JURADO, EMMA

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

2022 , Keith Sacco , Riccardo Castagnoli , Svetlana Vakkilainen , Can Liu , Ottavia M. Delmonte , Cihan Oguz , Ian M. Kaplan , Sara Alehashemi , Peter D. Burbelo , Farzana Bhuyan , Adriana A. de Jesus , Kerry Dobbs , Lindsey B. Rosen , Aristine Cheng , Elana Shaw , Mikko S. Vakkilainen , Francesca Pala , Justin Lack , Yu Zhang , Danielle L. Fink , Vasileios Oikonomou , Andrew L. Snow , Clifton L. Dalgard , Jinguo Chen , Brian A. Sellers , Gina A. Montealegre Sanchez , Karyl Barron , REY JURADO, EMMA , VIAL COX, MARIA CECILIA , POLI HARLOWE, MARIA CECILIA BERTA , 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 Mató , Dana Gerstbacher , Meng Truong , Michael A. Stack , Mary Magliocco , Marita Bosticardo , Tomoki Kawai , Jeffrey J. Danielson , Tyler Hulett , Manor Askenazi , Shaohui Hu , Jason Barnett , Xi Cheng , Krishnaveni Kaladi , Vasudev Kuram , Joseph Mackey , Neha M. Bansal , Andrew J. Martins , Boaz Palterer , Helen Matthews , Uma Mudunuri , Marshall Nambiar , Andrew J. Oler , Andre Rastegar , Smilee Samuel , Conrad Shyu , Varsha Waingankar , Sarah Weber , Sandhya Xirasagar , Yazmin Espinosa , Camila Astudillo , Cecilia Piñera , Ricardo González , Maria De Filippo , Martina Votto , Lorenza Montagna , 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