Aina Cucurull-Aguilo

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 13 publications

Transmission of F12-related hereditary angioedema through a sperm donor.

Transmission of F12-related hereditary angioedema through a sperm donor.

Journal: Frontiers in immunology
Published: January 29, 2026

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.

Journal: Frontiers in genetics
Published: December 22, 2025

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Journal: Journal of clinical immunology
Published: June 27, 2025

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.

Journal: NPJ genomic medicine
Published: May 02, 2025

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.

Journal: Frontiers in immunology
Published: December 23, 2024

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Journal: Journal of clinical immunology
Published: April 03, 2024

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

Journal: Journal of clinical immunology
Published: November 13, 2023

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

Journal: Journal of clinical immunology
Published: March 28, 2023

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Journal: Frontiers in immunology
Published: August 09, 2022

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

Journal: Frontiers in immunology
Published: February 22, 2022

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.

Journal: Frontiers in immunology
Published: December 02, 2019

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Journal: Frontiers in immunology
Published: July 26, 2019
Showing 1-12 of 13

Last Updated: 09/26/2026