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Journal Articles

Understanding Haploinsufficiency of A20: From Clinical Presentation to Functional Tests

María Giselle Villarreal, Judith Yancoski, Agustín Rizzo, Andrea Bernasconi, Francisco Cano, Georgina Del Georgio, Verónica Goris, Luciana Lancioni, Juan Pablo Portigliatti, Emma Prieto, María Emilia Puentes, Luciana Vasconcellos, María Martha Katsicas

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.63.

https://doi.org/10.70962/LASID2025abstract.63

Published: 22 December 2025

View article titled, Understanding Haploinsufficiency of A20: From Clinical Presentation to Functional Tests

Journal Articles

A Mild Pediatric Phenotype of PAMI/PAPA Syndrome Associated with PSTPIP1 Variant

Florencia A. D’Angelo, Alejandra Lampugnani, Celina Franco, Estefania Rossetti, Judith Yancoski, Andrea Bernasconi, Agustin Rizzo, Claudia Merhar, Matias Oleastro, Mariana Villa

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.82.

https://doi.org/10.70962/LASID2025abstract.82

Published: 22 December 2025

View article titled, A Mild Pediatric Phenotype of PAMI/PAPA Syndrome Associated with PSTPIP1 Variant

Journal Articles

Late-Onset X-Linked Lymphoproliferative Disease Type 1 (XLP-1): A Mild Phenotype Possibly Explained by Somatic Reversion in SH2D1A

Georgina Roffé, Agustín Rizzo, Verónica Goris, Emma Prieto, Marianela Sanz, Jonathan Zaiat, Lorenzo Erra, Micaela Nievas, Andrea Bernasconi, María Belén Almejun, Gabriela Pereyra

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.70.

https://doi.org/10.70962/LASID2025abstract.70

Published: 22 December 2025

View article titled, Late-Onset X-Linked Lymphoproliferative Disease Type 1 (XLP-1): A Mild Phenotype Possibly Explained by Somatic Reversion in SH2D1A