Verónica Goris
17 Papers
Verónica Goris is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 2, co-authored 3 publications.
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Papers
Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience
Luciano Urdinez,Lorenzo Erra,Alejandro Palma,María Florencia Mercogliano,Julieta Fernández,Emma Prieto,Verónica Goris,Andrea Bernasconi,Maria-angeles Sanz,M. Villa,Carolina Bouso,Lucia Caputi,Belén Barrantes Quesada,Daniel Solis,Anabel Aguirre Bruzzo,MM Katsicas,Laura Galluzzo,Christian Weyersberg,M. Bocian,María Marta Buján,Matías Oleastro,María Belén Almejún,Silvia Danielian +22 more
TL;DR: In this paper , the authors report clinical characteristics, immunophenotypes and genotypes of 15 patients from a center presenting with CARD11-associated diseases, including B cell expansion with NF-κB and T cell anergy (BENTA) diagnosis.
Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation—Case Report
Luciano Urdinez,Verónica Goris,Silvia Danielian,Matías Oleastro,Guadalupe Natalia H. Jessica Lopez Maria Jose Perez Torres Marti Izaguirre,Guadalupe Perez,N. Torres,J. L. Marti,Maria Jose Izaguirre +8 more
TL;DR: A 6-year-old female, second child of nonconsanguineous healthy parents as well as her brother, who developed disseminated BCG disease (BCG-osis) is presented, finding a previously reported heterozygous disease-causing variant in STAT3 (NM_139276), suggesting that it was a de novo variant.
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CARD8: An Emerging Genetic Cause of Autoinflammatory and CVID-Like Syndromes?
L. I. Uriarte,Lorenzo Erra,Diana Cabanillas,I. Moreira,Judith Yancoski,Maria Claudia Assali,Jonathan Zaiat,Emma Prieto,G. Seminario,Astrid Schellnast Faure,Verónica Goris,Lorena Regairaz,Liliana Bedroznik,María Belén Almejún +13 more
- 22 Dec 2025
An Autoinflammatory Syndrome Caused by PSMB9 Deficiency: The Power of Functional Testing to Guide Therapy
Claudia Merhar,Judith Yancoski,Florencia D'Angelo,Verónica Goris,Emma Prieto,Celina Franco,Laura Perez,Giselle Villarreal,María Martha Katicas,Mariana Villa,Matías Oleastro +10 more
- 22 Dec 2025
TL;DR: A 9-year-old girl with recurrent systemic hyperinflammation and partial hemophagocytic lymphohistiocytosis was diagnosed with PSMB9 deficiency, a proteasome-associated autoinflammatory syndrome, through functional testing and genetic analysis, leading to effective treatment with ruxolitinib.
Central Nervous System (CNS) Manifestations in Chronic Granolomatous Disease (CGD): Single Pediatric Center Experience
Celina Franco,Florencia D'Angelo,Verónica Goris,Emma Prieto,Judith Yancoski,Claudia Merhar,Mariana Villa,Laura Perez,Matías Oleastro +8 more
- 22 Dec 2025
TL;DR: This study reports CNS manifestations in 11.4% of 70 pediatric CGD patients, with 62.5% linked to active systemic infections and 37.5% to residual oxidative burst activity, highlighting the importance of early diagnosis and personalized management.