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Journal Articles

Dominant-Negative IL10RA Variant in a Family with Variable Autoimmune Manifestations: Expanding the Spectrum of IL10R-Associated Immune Dysregulation

Lorenzo Erra, María Soledad Gori, Nicole Degraf, Mora Bertoni, Franco G. Brunello, Andrea Bernasconi, Monica Contreras, Florencia Biasoli, Jonathan Zaiat, Silvia Danielian, Matias Oleastro, Carla Chackelevicious, M. Belén Almejún

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.43.

https://doi.org/10.70962/LASID2025abstract.43

Published: 22 December 2025

View article titled, Dominant-Negative IL10RA Variant in a Family with Variable Autoimmune Manifestations: Expanding the Spectrum of IL10R-Associated Immune Dysregulation

Journal Articles

Novel PTPN2 Variants in Pediatric Patients with Autoimmune and Immunodeficiency Phenotypes: Functional Impact on STAT Signaling

Nicole Degraf, Lorenzo Erra, Mora Bertoni, Verónica Goris, Emma Prieto, Jonathan Zaiat, Matias Oleastro, M. Belén Almejún

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.45.

https://doi.org/10.70962/LASID2025abstract.45

Published: 22 December 2025

View article titled, Novel PTPN2 Variants in Pediatric Patients with Autoimmune and Immunodeficiency Phenotypes: Functional Impact on STAT Signaling

Journal Articles

Functional Characterization of STAT1 and STAT3 Variants in Pediatric Patients with Immune Dysregulation

Mora Bertoni, Franco Gino Brunello, Andrea Bernasconi, Daiana Flores, Fernando López Borzone, Jonathan Zaiat, Lorenzo Erra, Emilio Rubulotta, Miguel Galicchio, Ignacio Leandro Uriarte, María Belén Almejun

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.44.

https://doi.org/10.70962/LASID2025abstract.44

Published: 22 December 2025

View article titled, Functional Characterization of STAT1 and STAT3 Variants in Pediatric Patients with Immune Dysregulation