Mariana Villa

B, Argentina

Last Updated: 09/26/2026

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Found 10 publications

Clinical and immunological evaluation of patients with inborn errors of immunity after hematopoietic cell transplantation

Clinical and immunological evaluation of patients with inborn errors of immunity after hematopoietic cell transplantation

Journal: Archivos argentinos de pediatria

Published: May 26, 2026

Challenges in the evaluation of patients with inborn errors of immunity following the implementation of the 20-valent pneumococcal conjugate vaccine

Challenges in the evaluation of patients with inborn errors of immunity following the implementation of the 20-valent pneumococcal conjugate vaccine

Journal: Archivos argentinos de pediatria

Published: May 13, 2025

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.

Journal: EMBO molecular medicine

Published: April 09, 2025

T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.

T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.

Journal: Heliyon

Published: September 20, 2024

Recommendations about immunizations in patients with inborn errors of immunity

Recommendations about immunizations in patients with inborn errors of immunity

Journal: Archivos argentinos de pediatria

Published: August 23, 2024

Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Journal: Archivos argentinos de pediatria

Published: January 26, 2023

Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience.

Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience.

Journal: Frontiers in immunology

Published: August 16, 2022

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

Journal: Journal of clinical immunology

Published: November 28, 2021

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Journal: Journal of clinical immunology

Published: September 28, 2021

Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.

Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.

Journal: Journal of clinical immunology

Published: March 27, 2018

Showing 1-10 of 10

Last Updated: 09/26/2026