1-11 of 11
Judith Yancoski
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

When ITP Isn’t Just ITP: A Case of SOCS1 Haploinsufficiency with Bone Marrow Hypocellularity in a Pediatric Patient

Astrid Schellnast Faure, Diana Cabanillas, Claudia Ruiz, Judith Yancoski, Belen Almejun, Lorena Regairaz
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.15.
https://doi.org/10.70962/LASID2025abstract.15
Published: 22 December 2025
View article titled, When ITP Isn’t Just ITP: A Case of SOCS1 Haploinsufficiency with Bone Marrow Hypocellularity in a Pediatric Patient
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

Chronicle of a Gene Foretold: A Family Case Report

Daiana Natalí Espantoso, Gustavo Vijoditz, Leila Ferreyra Mufarregue, Veronica Goris, Emma Prieto, Judith Yancoski, Daiana Giardina, María Paula Vazquez, Diego Sanhueza Carrasco, Lisa López Ares, Andrea Bender, Matias Juanes, Flavia Caputo
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.59.
https://doi.org/10.70962/LASID2025abstract.59
Published: 22 December 2025
View article titled, Chronicle of a Gene Foretold: A Family Case Report
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
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
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

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

CARD8: An Emerging Genetic Cause of Autoinflammatory and CVID-Like Syndromes?

L. Ignacio Uriarte, Lorenzo Erra, Diana Cabanillas, Ileana Moreira, Judith Yancoski, Maria Claudia Assali, Jonathan Zaiat, Emma Prieto, Gisela Seminario, Astrid Schellnast Faure, Verónica Goris, Lorena Regairaz, Liliana Bedroznik, María Belén Almejun
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.48.
https://doi.org/10.70962/LASID2025abstract.48
Published: 22 December 2025
View article titled, CARD8: An Emerging Genetic Cause of Autoinflammatory and CVID-Like Syndromes?
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
Journal Articles

A Novel Heterozygous OAS1 Variant in a Child with Systemic Inflammation, Epilepsy, and Urticaria: Expanding the Spectrum of Type I Interferonopathies

Luis Ignacio Laurito, Lorenzo Erra, Diana Cabanillas, Jonathan Zaiat, María Paula Del Palacio, Judith Yancoski, Lorena Regairaz, María Belén Almejún, Astrid Schellnast Faure
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.35.
https://doi.org/10.70962/LASID2025abstract.35
Published: 22 December 2025
View article titled, A Novel Heterozygous OAS1 Variant in a Child with Systemic Inflammation, Epilepsy, and Urticaria: Expanding the Spectrum of Type I Interferonopathies