Bernice M. Lo

Research Branch
Doha, DA, Qatar

Last Updated: 09/26/2026

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Found 65 publications

Inherited human TFIIIA deficiency disrupts T cell development.

Inherited human TFIIIA deficiency disrupts T cell development.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2026

Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures.

Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures.

Journal: Frontiers in pediatrics

Published: February 13, 2026

The MENAT Region Inborn Errors of Immunity Research Consortium Registry (MENAT-IEI-RCR): Establishing a regional framework for collaborative research.

The MENAT Region Inborn Errors of Immunity Research Consortium Registry (MENAT-IEI-RCR): Establishing a regional framework for collaborative research.

Journal: Clinical immunology (Orlando, Fla.)

Published: January 26, 2026

Hypoproteinemia and Hypogammaglobulinemia Due to a Homozygous FCGRT Mutation.

Hypoproteinemia and Hypogammaglobulinemia Due to a Homozygous FCGRT Mutation.

Journal: Journal of clinical immunology

Published: January 24, 2026

Autosomal recessive A20 zinc finger 7 mutation is associated with early-onset lupus-like disease.

Autosomal recessive A20 zinc finger 7 mutation is associated with early-onset lupus-like disease.

Journal: Inflammation research : official journal of the European Histamine Research Society ... [et al.]

Published: November 19, 2025

A curated list of immune system associated genes related to cancer.

A curated list of immune system associated genes related to cancer.

Journal: BMC genomic data

Published: November 13, 2025

A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation.

A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation.

Journal: Journal of human immunity

Published: October 20, 2025

SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.

SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.

Journal: The journal of allergy and clinical immunology. In practice

Published: October 01, 2025

Abatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiency.

Abatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiency.

Journal: The Journal of allergy and clinical immunology

Published: June 04, 2025

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency.

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency.

Journal: Frontiers in immunology

Published: May 23, 2025

The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.

The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.

Journal: International journal of molecular sciences

Published: April 15, 2025

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Journal: International journal of molecular sciences

Published: March 28, 2025

Showing 1-12 of 65

Last Updated: 09/26/2026