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Journal Articles

Interferonopathies in Brazil: The Pivotal Role of the Interferon Signature for Diagnosis and for the Genetic Sequencing in the CNE3i

Leonardo Oliveira Mendonça, Amanda Melato de Oliveira, Daniela Gerent Petry, Ana Cristina Curi, Maria Teresa Terreri, Maria Lúcia Carvenalle-Marin, Guilherme Burgarelli, Estrela Giani, Isabella Faria-Morais, Márcia Toraiwa Iwashita, Ludmilla Masiero, Viviane Guimaro Mendes Resende Barreto, Evaldo Sena, Vera Dantas, Danielli Bichuetti-Silva, Fabiane Mitie Osaku, Anne Rose Leopoldina Wiedercker Bau, Mariana Castro Loureiro Curi Castro Loureiro Curi, Marvin Lins, Joseane Chiabai, Janeira Ferreira Severo Fernandes, Luciane Maraldi Freire, Luciana Martins de Carvalho, Flavia Alice Timburibá Guimarães, Patricia Aparecida de Matos Fidelis, Adriana Pitchon Reis Chuster, Raquel Pitchon Reis, Maria Vitória Quintero, Filipe Didier, Luana Ribeiro Carlos, Tereza Robazzi, Daniella Porfírio Nunes, Sineida Berbert Ferreira, Maria Cecília Rivitti-Machado, Henrique Ayres, Renata Paolilo, Katia Tomie Kozu, Guilherme Diogo da Silva, Tania Maria Sih, Ester Sabino, Magda Maria Carneiro-Sampaio, Marie-Louise Frémond, Samar Freschi Barros, Jorge Kalil
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.161.
https://doi.org/10.70962/CIS2026abstract.161
Published: 01 May 2026
View article titled, Interferonopathies in Brazil: The Pivotal Role of the Interferon Signature for Diagnosis and for the Genetic Sequencing in the CNE3i
Journal Articles

Peripheral Expression of FOXP3 in Brazilian Patients with IPEX Syndrome: From FOXP3 Biomarker to Targeted FOXP3 Therapy Within the CNE3I

Leonardo Oliveira Mendonça, Amanda Melato de Oliveira, Sandra Maria Monteiro, Maria Lúcia Carnevale Marin, Danielli Bichuetti-Silva, Ana Luiza Cunha, Paula Lyra, Renata Capeletti Padula, Luma Abou Jokh Espindola, Giovanna Capato Vilero, Joseane Chiabai, Cristina Kokron, Márcia Toraiwa Iwashita, Ludmilla Masiero, Mayra Dorna, Isabella Faria-Morais, Guilherme Burgarelli, Jessie Lee An Alexander, Rosa Bachetta, Samar Freschi-Barros, Jorge Kalil, Magda Maria Carneiro-Sampaio
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.175.
https://doi.org/10.70962/CIS2026abstract.175
Published: 01 May 2026
View article titled, Peripheral Expression of FOXP3 in Brazilian Patients with IPEX Syndrome: From FOXP3 Biomarker to Targeted FOXP3 Therapy Within the CNE3I
Journal Articles

Clinical and Genetic Spectrum of Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Like Disorders in Brazil: Insights from the First Year of the CNE3i National Cohort

Marcia Toraiwa Iwashita, Daniela Petry, Samar Freschi Barros, Maria Lúcia Carnevale Marin, Sandra Maria Monteiro, Guilherme Burgarelli, Estrela Gianni, Isabella Faria Morais, Amanda Melato de Oliveira, Viviane Guimaro, Rafael Paternò Castello Dias-Carneiro, Felipe Bassetto Cappell, Danielli Bichuetti-Silva, Fabianne Mitie Osaku, Anne-Rose Bau, Mariana Castro Loureiro Borges e Curi, Marvin Lins, Joseane Chiabai, Janaira Fernandes Severo Ferreira, Luciana Maraldi Freire, Luciana Martins Cunha, Flávia Alice Timburibá de Medeiros Guimarães, Patrícia Fidelis, Viviane Carlotto, Rafael Cardoso Maciel Costa Silva, Lucas Augusto Moyses Franco, Midiã Silva Ferreira, Persio Roxo-Junior, Tania Sih, Magda Carneiro-Sampaio, Jorge Kalil, Maria Teresa Terreri, Leonardo Mendonça
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.39.
https://doi.org/10.70962/CIS2026abstract.39
Published: 01 May 2026
View article titled, Clinical and Genetic Spectrum of Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Like Disorders in Brazil: Insights from the First Year of the CNE3i National Cohort
Includes: Supplementary data
Journal Articles

Clinical and Genetic Spectrum of Pyrinopathies in Brazilian Patients: Insights from the First Year of the CNE3i National Cohort

Leonardo Oliveira Mendonça, Ana Cristina Pithon Curi, Erika Leide Pasciano, Midiã Silva Fereira, Lucas Augusto Moyses Franco, Ludmilla Masiero Silva, Samar Freschi de Barros, Marcia Toraiwa Iwashita, Tereza Robazzi, Viviane Guimaro Mendes Barreto Resende, Sarah Sella Langer (in memorian), Helimara Costa Goes, Danielli Bichuetti-Silva, Joara Martins da Silva Gordo de Paula, Janaira Fernandes Severo Ferreira, Andre Pastore, Ana Carolina Maffei Dardis, Maria Lúcia Carnevale Marin, Guilherme Burgarelli, Estrela Giani, Amanda Melato de Oliveira, Isabella Faria-Morais, Rafael Cardoso Maciel Costa e Silva, Bianca Barros, Jéssica Antunes Ribeiro, Alessandra Pontillo, Tania Sih, Magda Carneiro-Sampaio, Jorge Kalil
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.127.
https://doi.org/10.70962/CIS2026abstract.127
Published: 01 May 2026
View article titled, Clinical and Genetic Spectrum of Pyrinopathies in Brazilian Patients: Insights from the First Year of the CNE3i National Cohort
Includes: Supplementary data
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