Get started
Author

Mariana Villa

ORCID: 0000-0002-3413-7721
Observed ORCID: 0000-0002-3413-7721
OpenAlex ID: A5085488754
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
2022 · Jennifer W. Leiding, Tiphanie P. Vogel, et al. · Journal of Allergy and Clinical Immunology · 144
PDF
Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience
2022 · Luciano Urdinez, Lorenzo Erra, et al. · Frontiers in Immunology · 27
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency
2022 · Jérémie Rosain, Andrea Bernasconi, et al. · Journal of Clinical Immunology · 26
PDF
Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects
2018 · Andrea R. Bernasconi, Judith Yancoski, et al. · Journal of Clinical Immunology · 24
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation
2025 · Marie Jeanpierre, Orianne Debeaupuis, et al. · EMBO Molecular Medicine · 3
Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad
2023 · Mariana Villa, Claudia Merhar, et al. · Archivos Argentinos de Pediatria · 2
PDF
An Autoinflammatory Syndrome Caused by PSMB9 Deficiency: The Power of Functional Testing to Guide Therapy
2025 · Claudia Merhar, Judith Yancoski, et al. · Journal of Human Immunity · 1
Desafíos en la evaluación de pacientes con errores innatos de la inmunidad ante la implementación de la vacuna antineumocócica conjugada 20-valente
2025 · Diana Cabanillas, María N Tahuil, et al. · Archivos Argentinos de Pediatria · 1
PDF
Recomendaciones para la inmunización de pacientes con errores innatos de la inmunidad
2024 · María N Tahuil, Carolina Bouso, et al. · Archivos Argentinos de Pediatria · 1
PDF
Evaluación clínica e inmunológica de pacientes conerrores innatos de la inmunidad postrasplante de célulashematopoyéticas
2026 · Agostina Llarens, Diana Cabanillas, et al. · Archivos Argentinos de Pediatria
PDF
A Mild Pediatric Phenotype of PAMI/PAPA Syndrome Associated with PSTPIP1 Variant
2025 · Florencia A. D’Angelo, Alejandra Lampugnani, et al. · Journal of Human Immunity
Central Nervous System (CNS) Manifestations in Chronic Granolomatous Disease (CGD): Single Pediatric Center Experience
2025 · Celina Franco, Florencia D'Angelo, et al. · Journal of Human Immunity
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
2025 · Verónica Goris, Emma Prieto, et al. · Journal of Human Immunity
Use of Abatacept for Refractory Colitis in an APDS1 Patient: A Case Report
2025 · Celina Franco, Florencia D'Angelo, et al. · Journal of Human Immunity
Functional Consequences of IRF2BP2 Variants in Patients with Isolated Immune Dysregulation
2025 · Judith Yancoski, Belen Almejum, et al. · Journal of Human Immunity
T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations
2025 · Lorenzo Erra, Ana Colado, et al. · Heliyon
STX11 p.R129P variant correlate with an in vitro impairment in NK and CD8+ T-cell-mediated cytotoxicity
2023 · Lorenzo Erra, Ana Colado, et al. · Research Square
PDF
Works count: 17
Citation count: 229
H-index: 4
I10-index: 4
Year
Topic
Type