Janire Prieto-Perurena

Barcelona, CT 08035, Spain

Last Updated: 09/26/2026

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Found 22 publications

Analysis of Clinical Characteristics of Patients with Systemic Sclerosis and Gastric Antral Vascular Ectasia.

Analysis of Clinical Characteristics of Patients with Systemic Sclerosis and Gastric Antral Vascular Ectasia.

Journal: Journal of clinical medicine

Published: March 19, 2026

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

Journal: Frontiers in immunology

Published: February 03, 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

Change in Antinuclear Antibodies After Lung Transplantation in Patients with Systemic Sclerosis.

Change in Antinuclear Antibodies After Lung Transplantation in Patients with Systemic Sclerosis.

Journal: Journal of clinical medicine

Published: October 21, 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

Expanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing.

Expanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing.

Journal: Journal of autoimmunity

Published: August 16, 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

Identification of connective tissue disease autoantibodies and a novel autoantibody anti-annexin A11 in patients with "idiopathic" interstitial lung disease.

Identification of connective tissue disease autoantibodies and a novel autoantibody anti-annexin A11 in patients with "idiopathic" interstitial lung disease.

Journal: Clinical immunology (Orlando, Fla.)

Published: January 17, 2024

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.

Journal: Kidney international reports

Published: December 14, 2023

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

Showing 1-12 of 22

Last Updated: 09/26/2026