Roger Colobran

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 84 publications

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

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

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.

Journal: Journal of human immunity

Published: November 26, 2025

Impact of FCGR2A and FCGR3A Gene Variants on the Response to Rituximab in Patients With Glomerular Diseases.

Impact of FCGR2A and FCGR3A Gene Variants on the Response to Rituximab in Patients With Glomerular Diseases.

Journal: Pharmacology research & perspectives

Published: September 23, 2025

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Journal: Annals of clinical and translational neurology

Published: September 10, 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

Pharmacokinetic Characterization of Rituximab in Patients with Glomerular Diseases.

Pharmacokinetic Characterization of Rituximab in Patients with Glomerular Diseases.

Journal: Therapeutic drug monitoring

Published: December 05, 2024

The immune response to SARS-CoV-2 in COVID-19 as a recall response susceptible to immune imprinting: A prospective cohort study.

The immune response to SARS-CoV-2 in COVID-19 as a recall response susceptible to immune imprinting: A prospective cohort study.

Journal: Clinical immunology (Orlando, Fla.)

Published: November 20, 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

Showing 1-12 of 84

Last Updated: 09/26/2026