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Matias Oleastro
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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
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
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

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
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.71.
https://doi.org/10.70962/LASID2025abstract.71
Published: 22 December 2025
View article titled, Central Nervous System (CNS) Manifestations in Chronic Granolomatous Disease (CGD): Single Pediatric Center Experience
Journal Articles

Functional Consequences of IRF2BP2 Variants in Patients with Isolated Immune Dysregulation

Judith Yancoski, Belen Almejum, Lorenzo Erra, Pedro Zubizarreta, Gustavo Martin, Gisela Seminario, Liliana Bedroznik, Giselle Villareal, Maria Martha Katsicas, Matias Oleastro, Mariana Villa
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.55.
https://doi.org/10.70962/LASID2025abstract.55
Published: 22 December 2025
View article titled, Functional Consequences of IRF2BP2 Variants in Patients with Isolated 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
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
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

De Novo RHOG Variant in a Patient with Combined Immunodeficiency and Extensive Viral Infections: A Potential New Disease Mechanism

Ana Laura Lopez, Lorenzo Erra, Emma Prieto, Verónica Goris, Ernestina Angarola, Jonathan Zaiat, Matías Oleastro, María Belén Almejun, María Virginia Paolini
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.18.
https://doi.org/10.70962/LASID2025abstract.18
Published: 22 December 2025
View article titled, De Novo RHOG Variant in a Patient with Combined Immunodeficiency and Extensive Viral Infections: A Potential New Disease Mechanism
Journal Articles

Use of Abatacept for Refractory Colitis in an APDS1 Patient: A Case Report

Celina Franco, Florencia D'Angelo, David Fabbrini, Christian Weyersberg, Mónica Contreras, Nilda Gonzalez Roibon, Andrea Bernasconi, Verónica Goris, Emma Prieto, Judith Yancoski, Claudia Merhar, Mariana Villa, Matías Oleastro
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.61.
https://doi.org/10.70962/LASID2025abstract.61
Published: 22 December 2025
View article titled, Use of Abatacept for Refractory Colitis in an APDS1 Patient: A Case Report
Journal Articles

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
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.102.
https://doi.org/10.70962/LASID2025abstract.102
Published: 22 December 2025
View article titled, An Autoinflammatory Syndrome Caused by PSMB9 Deficiency: The Power of Functional Testing to Guide Therapy
Journal Articles

MLPA+Ddpcr: Dual Molecular Strategy to Detect Copy Number Variations (CNVs) in Inborn Error of Immunity (IEI) Genes: A Case Study of the WAS Gene

Verónica Goris, Emma Prieto, Mariana Villa, Matías Oleastro, Judith Yancoski
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.68.
https://doi.org/10.70962/LASID2025abstract.68
Published: 22 December 2025
View article titled, MLPA+Ddpcr: Dual Molecular Strategy to Detect Copy Number Variations (CNVs) in Inborn Error of Immunity (IEI) Genes: A Case Study of the WAS Gene
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
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
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